LPL (lipoprotein lipase) - Rat Genome Database

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Gene: LPL (lipoprotein lipase) Homo sapiens
Analyze
Symbol: LPL
Name: lipoprotein lipase
RGD ID: 70836
HGNC Page HGNC:6677
Description: Enables several functions, including heparan sulfate proteoglycan binding activity; heparin binding activity; and lipase activity. Involved in several processes, including cholesterol homeostasis; positive regulation of lipid storage; and triglyceride-rich lipoprotein particle remodeling. Located in extracellular space. Part of catalytic complex. Implicated in Alzheimer's disease; artery disease (multiple); familial hyperlipidemia (multiple); muscular disease; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HDLCQ11; LIPD; phospholipase A1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BP2_H  
Candidate Gene For: BW300_H GLUCO108_H GLUCO109_H BW512_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38819,939,253 - 19,967,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl819,901,717 - 19,967,259 (+)EnsemblGRCh38hg38GRCh38
GRCh37819,796,764 - 19,824,770 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36819,840,862 - 19,869,050 (+)NCBINCBI36Build 36hg18NCBI36
Build 34819,841,057 - 19,869,049NCBI
Celera818,759,678 - 18,787,858 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef818,336,820 - 18,365,002 (+)NCBIHuRef
CHM1_1819,998,390 - 20,026,574 (+)NCBICHM1_1
T2T-CHM13v2.0820,204,296 - 20,232,297 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal obesity-metabolic syndrome 1  (ISO)
Alcoholic Liver Diseases  (ISO)
Alzheimer's disease  (IAGP,IEP)
Animal Mammary Neoplasms  (EXP)
basal cell carcinoma  (EXP)
carcinoma  (EXP)
cardiomyopathy  (EXP)
cardiovascular system disease  (EXP)
celiac disease  (EXP)
Chemical and Drug Induced Liver Injury  (ISO)
Chronic Intermittent Hypoxia  (ISO)
Colonic Neoplasms  (EXP)
coronary artery disease  (IAGP)
Coronary Disease  (IAGP,ISO)
COVID-19  (HEP)
Diabetic Nephropathies  (IAGP)
dilated cardiomyopathy  (IAGP)
dilated cardiomyopathy 1A  (IAGP)
dilated cardiomyopathy 1H  (IAGP)
Dyslipidemias  (EXP)
end stage renal disease  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
Experimental Mammary Neoplasms  (EXP)
familial combined hyperlipidemia  (EXP,IAGP)
Familial Hyperchylomicronemia Syndrome  (IAGP)
familial hyperlipidemia  (EXP,IAGP,ISO)
familial lipase maturation factor 1 deficiency  (IAGP)
familial lipoprotein lipase deficiency  (EXP,IAGP,ISS)
focal segmental glomerulosclerosis  (ISO)
genetic disease  (IAGP)
hepatitis C  (EXP)
hereditary spastic paraplegia 53  (IAGP)
Hyperapobetalipoproteinemia  (IAGP)
Hypercholesterolemia  (EXP)
Hyperlipoproteinemia Type II  (EXP)
hypertension  (EXP,IAGP)
Hypertriglyceridemia  (EXP,IAGP,ISO)
Insulin Resistance  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
muscular disease  (IMP)
myocardial infarction  (IAGP)
Necrosis  (EXP)
obesity  (EXP,ISO)
pancreatitis  (EXP)
Prostatic Neoplasms  (EXP)
type 2 diabetes mellitus  (IAGP,IEP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP,ISO)
(+/-)-Aegeline  (ISO)
(1->4)-beta-D-glucan  (ISO)
(20S)-ginsenoside Rh1  (ISO)
(R)-noradrenaline  (ISO)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
(S)-nicotine  (ISO)
(Z)-ligustilide  (ISO)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose 6-phosphate  (ISO)
2-butoxyethanol  (ISO)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (EXP)
3-aminobenzamide  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-phenylprop-2-enal  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-nonylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7alpha-hydroxycholesterol  (EXP)
8-Br-cAMP  (ISO)
9,10-epoxy-12-octadecenoic acid  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acetylcholine  (EXP)
aconitine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine 6-phosphate  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
Aloe emodin  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
ATP  (EXP)
Benoxacor  (ISO)
benzbromarone  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-carotene  (ISO)
beta-D-glucosamine 6-sulfate  (ISO)
beta-naphthoflavone  (EXP,ISO)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP,ISO)
Bisphenol B  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromuconazole  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
cannabidiol  (ISO)
cantharidin  (ISO)
carbendazim  (ISO)
carbon nanotube  (ISO)
casticin  (EXP)
CGP 12177  (ISO)
chenodeoxycholic acid  (ISO)
Chikusetsusaponin-V  (ISO)
chlordecone  (ISO)
chloroform  (ISO)
chlorogenic acid  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (EXP,ISO)
cisplatin  (EXP,ISO)
clofibrate  (EXP,ISO)
clozapine  (ISO)
colforsin daropate hydrochloride  (ISO)
conjugated linoleic acid  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
cordycepin  (EXP)
cortisol  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cytochalasin B  (ISO)
D-gluconic acid  (ISO)
D-glucose  (EXP,ISO)
DDT  (EXP)
decabromodiphenyl ether  (EXP)
deoxycholic acid  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (EXP,ISO)
dibutylstannane  (EXP,ISO)
dichlorvos  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (EXP,ISO)
dioxygen  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
duvoglustat  (ISO)
efavirenz  (EXP)
endosulfan  (ISO)
enilconazole  (EXP)
entinostat  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
etofibrate  (ISO)
fenofibrate  (EXP,ISO)
fluvastatin  (EXP)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
fumonisin B1  (ISO)
furan  (ISO)
gemfibrozil  (EXP,ISO)
genistein  (ISO)
ginsenoside Rb2  (ISO)
ginsenoside Rd  (ISO)
ginsenoside Re  (ISO)
ginsenoside Rg1  (ISO)
glucose  (EXP,ISO)
glycyrrhizinic acid  (ISO)
griseofulvin  (ISO)
guggulsterone  (ISO)
GW 3965  (EXP)
GW 7647  (EXP)
heparin  (EXP,ISO)
Heptachlor epoxide  (ISO)
hesperetin  (EXP)
high-density lipoprotein cholesterol  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (ISO)
indinavir  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP,ISO)
insulin  (EXP)
inulin  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
lidocaine  (ISO)
linalool  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
lovastatin  (ISO)
LY294002  (EXP,ISO)
maneb  (ISO)
mangiferin  (EXP)
melatonin  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
mifepristone  (ISO)
Monobutylphthalate  (ISO)
monocrotophos  (ISO)
morphine  (ISO)
myricetin  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-phosphocreatine  (ISO)
naringin  (ISO)
nelfinavir  (ISO)
nevirapine  (EXP)
nickel atom  (EXP)
nicotinamide  (ISO)
nicotine  (ISO)
ochratoxin A  (EXP)
Octicizer  (ISO)
okadaic acid  (ISO)
orlistat  (EXP,ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (EXP)
PD 0325901  (EXP)
perfluorobutyric acid  (ISO)
perfluoroheptanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phencyclidine  (ISO)
phenobarbital  (ISO)
Phenylamil  (ISO)
phenylephrine  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phoxim  (ISO)
picrotoxin  (ISO)
piperine  (ISO)
pirinixic acid  (ISO)
platycodin D  (ISO)
potassium chloride  (EXP,ISO)
pravastatin  (ISO)
prazosin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (ISO)
progesterone  (ISO)
propamocarb  (ISO)
propranolol  (ISO)
pyrazinecarboxamide  (ISO)
raloxifene  (EXP,ISO)
resveratrol  (EXP,ISO)
ritonavir  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
saquinavir  (ISO)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
stavudine  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
terbufos  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetrahydrocurcumin  (ISO)
thapsigargin  (EXP)
Theaflavin 3,3'-digallate  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolclofos-methyl  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
tributylstannane  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triflumizole  (EXP,ISO)
triphenyl phosphate  (EXP,ISO)
tris(2-chloroethyl) phosphate  (ISO)
triticonazole  (ISO)
troglitazone  (EXP,ISO)
undecane  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vancomycin  (ISO)
venlafaxine hydrochloride  (ISO)
very-low-density lipoprotein triglyceride  (EXP)
vinclozolin  (ISO)
vitamin D  (EXP)
vorinostat  (EXP)
yohimbine  (ISO)
zaragozic acid A  (ISO)
zidovudine  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zingerone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to fatty acid  (IEA,ISS)
cellular response to nutrient  (IEA,ISS)
cholesterol homeostasis  (IBA,IMP)
chylomicron remodeling  (IC,IMP)
fatty acid biosynthetic process  (IBA,IC,IDA,ISS)
fatty acid metabolic process  (IDA)
high-density lipoprotein particle remodeling  (IBA)
lipid catabolic process  (IEA,ISO)
lipid metabolic process  (IEA)
low-density lipoprotein particle mediated signaling  (IMP)
negative regulation of cellular response to insulin stimulus  (ISO)
phospholipid metabolic process  (ISS)
positive regulation of adipose tissue development  (IMP)
positive regulation of chemokine (C-X-C motif) ligand 2 production  (IEA,ISS)
positive regulation of chemokine production  (IMP)
positive regulation of cholesterol storage  (IMP)
positive regulation of fat cell differentiation  (IMP)
positive regulation of inflammatory response  (IC,IEA,ISS)
positive regulation of interleukin-1 beta production  (IEA,ISS)
positive regulation of interleukin-6 production  (IEA,ISS)
positive regulation of lipid storage  (TAS)
positive regulation of macrophage derived foam cell differentiation  (IC,IEA)
positive regulation of sequestering of triglyceride  (IMP)
positive regulation of tumor necrosis factor production  (IEA,ISS)
response to bacterium  (IEA,ISO)
response to glucose  (ISS)
response to xenobiotic stimulus  (ISO)
retinoid metabolic process  (ISO)
triglyceride biosynthetic process  (ISO)
triglyceride catabolic process  (IBA,IDA,IEA,ISS)
triglyceride homeostasis  (IGI,NAS)
triglyceride metabolic process  (ISS)
very-low-density lipoprotein particle remodeling  (IBA,IDA,ISS)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Lack of association of lipoprotein lipase gene polymorphisms with coronary artery disease in the Saudi Arab population. Abu-Amero KK, etal., Arch Pathol Lab Med. 2003 May;127(5):597-600.
2. Thiazolidinedione induces a therapeutic effect on hepatosteatosis by regulating stearoyl-CoA desaturase-1, lipase activity, leptin and resistin. Al-Muzafar HM and Amin KA, Exp Ther Med. 2018 Oct;16(4):2938-2948. doi: 10.3892/etm.2018.6563. Epub 2018 Aug 2.
3. Postprandial chylomicrons and adipose tissue lipoprotein lipase are altered in type 2 diabetes independently of obesity and whole-body insulin resistance. Annuzzi G, etal., Nutr Metab Cardiovasc Dis. 2008 Oct;18(8):531-8. Epub 2008 Mar 5.
4. Linkage analysis of candidate genes and the small, dense low-density lipoprotein phenotype. Austin MA, etal., Atherosclerosis 1999 Jan;142(1):79-87.
5. Myrtenal alleviates hyperglycaemia, hyperlipidaemia and improves pancreatic insulin level in STZ-induced diabetic rats. Ayyasamy R and Leelavinothan P, Pharm Biol. 2016 Nov;54(11):2521-2527. doi: 10.3109/13880209.2016.1168852. Epub 2016 May 9.
6. Lipoprotein lipase mutations and Alzheimer's disease. Baum L, etal., Am J Med Genet. 1999 Apr 16;88(2):136-9.
7. A polymorphism in lipoprotein lipase affects the severity of Alzheimer's disease pathophysiology. Blain JF, etal., Eur J Neurosci. 2006 Sep;24(5):1245-51. doi: 10.1111/j.1460-9568.2006.05007.x. Epub 2006 Sep 8.
8. Effect of DanQi Pill on PPARa, lipid disorders and arachidonic acid pathway in rat model of coronary heart disease. Chang H, etal., BMC Complement Altern Med. 2016 Mar 22;16:103. doi: 10.1186/s12906-016-1083-3.
9. Lipoprotein lipase gene is linked and associated with hypertension in Taiwan young-onset hypertension genetic study. Chen P, etal., J Biomed Sci. 2005;12(4):651-8. Epub 2005 Nov 10.
10. Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus. Cho YS, etal., Exp Mol Med. 2008 Oct 31;40(5):523-32.
11. Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. Faustinella F, etal., J Biol Chem 1991 Aug 5;266(22):14418-24.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Ubá mango juices intake decreases adiposity and inflammation in high-fat diet-induced obese Wistar rats. Gomes Natal DI, etal., Nutrition. 2016 Sep;32(9):1011-8. doi: 10.1016/j.nut.2016.02.008. Epub 2016 Mar 4.
14. Lipoprotein lipase (LPL) is associated with neurite pathology and its levels are markedly reduced in the dentate gyrus of Alzheimer's disease brains. Gong H, etal., J Histochem Cytochem. 2013 Dec;61(12):857-68. doi: 10.1369/0022155413505601. Epub 2013 Sep 4.
15. Exercise prevents HFD- and OVX-induced type 2 diabetes risk factors by decreasing fat storage and improving fuel utilization. Gorres-Martens BK, etal., Physiol Rep. 2018 Jul;6(13):e13783. doi: 10.14814/phy2.13783.
16. Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency. Hokanson JE, etal., Am J Hum Genet 1999 Feb;64(2):608-18.
17. Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study. Izar MC, etal., Atherosclerosis. 2009 May;204(1):165-70. Epub 2008 Aug 14.
18. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
19. Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice. Levak-Frank S, etal., J Clin Invest 1995 Aug;96(2):976-86.
20. Effect of Glycine on Adipocyte Hypertrophy in a Metabolic Syndrome Rat Model. López YR, etal., Curr Drug Deliv. 2016;13(1):158-69.
21. [Gene expression of hormone sensitive lipase and lipoprotein lipase in obesity-prone and obesity-resistant rats induced by high-fat diet] Ma W, etal., Wei Sheng Yan Jiu. 2007 May;36(3):320-2.
22. Antihyperlipidemic and antiapoptotic potential of zingerone on alcohol induced hepatotoxicity in experimental rats. Mani V, etal., Chem Biol Interact. 2017 Jun 25;272:197-206. doi: 10.1016/j.cbi.2017.04.019. Epub 2017 Apr 22.
23. Lack of association of two lipoprotein lipase polymorphisms with Alzheimer's disease. Martin-Rehrmann MD, etal., Neurosci Lett. 2002 Aug 9;328(2):109-12.
24. Lipoprotein lipase: structure, function, regulation, and role in disease. Mead JR, etal., J Mol Med 2002 Dec;80(12):753-69. Epub 2002 Oct 24.
25. Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy. Ng MC, etal., Clin Genet. 2006 Jul;70(1):20-8.
26. Metabolism of very-low-density lipoprotein and chylomicrons by streptozotocin-induced diabetic rat heart: effects of diabetes and lipoprotein preference. Niu YG and Evans RD, Am J Physiol Endocrinol Metab. 2008 Nov;295(5):E1106-16. Epub 2008 Sep 9.
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease. Papassotiropoulos A, etal., J Clin Psychiatry. 2005 Jul;66(7):940-7.
29. Apolipoprotein E and lipoprotein lipase gene polymorphisms interaction on the atherogenic combined expression of hypertriglyceridemia and hyperapobetalipoproteinemia phenotypes. Perron P, etal., J Endocrinol Invest. 2007 Jul-Aug;30(7):551-7.
30. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
31. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
32. Anti-obesity effects of tea from Mangifera indica L. leaves of the Ubá variety in high-fat diet-induced obese rats. Ramírez NM, etal., Biomed Pharmacother. 2017 Jul;91:938-945. doi: 10.1016/j.biopha.2017.05.015. Epub 2017 May 13.
33. Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels. Razzaghi H, etal., Hum Genet. 2000 Sep;107(3):257-67.
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. Protein restriction and AST-120 improve lipoprotein lipase and VLDL receptor in focal glomerulosclerosis. Sato T, etal., Kidney Int. 2003 Nov;64(5):1780-6.
38. The H+ allele of the lipoprotein lipase (LPL) HindIII intronic polymorphism and the risk for sporadic late-onset Alzheimer's disease. Scacchi R, etal., Neurosci Lett. 2004 Sep 2;367(2):177-80. doi: 10.1016/j.neulet.2004.05.111.
39. Masoprocol decreases serum triglyceride concentrations in rats with fructose-induced hypertriglyceridemia. Scribner KA, etal., Metabolism. 2000 Sep;49(9):1106-10.
40. Strong Association of Lipid Metabolism Related MicroRNA Binding Sites Polymorphisms with the Risk of Late Onset Alzheimer's Disease. Tan L, etal., Curr Neurovasc Res. 2017;14(1):3-10. doi: 10.2174/1567202613666161027101100.
41. Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression. Vaziri ND, etal., Clin Exp Nephrol. 2012 Apr;16(2):238-43. Epub 2011 Oct 19.
42. Skeletal muscle-specific deletion of lipoprotein lipase enhances insulin signaling in skeletal muscle but causes insulin resistance in liver and other tissues. Wang H, etal., Diabetes. 2009 Jan;58(1):116-24. Epub 2008 Oct 24.
43. Pathogenesis of Abnormal Hepatic Lipid Metabolism Induced by Chronic Intermittent Hypoxia in Rats and the Therapeutic Effect of N-Acetylcysteine. Wang H, etal., Med Sci Monit. 2018 Jul 3;24:4583-4591. doi: 10.12659/MSM.907228.
44. Common DNA polymorphisms at the lipoprotein lipase gene. Association with severity of coronary artery disease and diabetes. Wang XL, etal., Circulation. 1996 Apr 1;93(7):1339-45.
45. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
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48. A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis. Yu XH, etal., Biochem Biophys Res Commun. 2006 Mar 3;341(1):82-7. Epub 2006 Jan 9.
49. Pyrazinamide induced hepatic injury in rats through inhibiting the PPARa pathway. Zhang Y, etal., J Appl Toxicol. 2016 Dec;36(12):1579-1590. doi: 10.1002/jat.3319. Epub 2016 Apr 12.
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Additional References at PubMed
PMID:182536   PMID:1281473   PMID:1371284   PMID:1400331   PMID:1406652   PMID:1479292   PMID:1511985   PMID:1521525   PMID:1537564   PMID:1576758   PMID:1598907   PMID:1619366  
PMID:1639392   PMID:1674945   PMID:1702428   PMID:1730727   PMID:1731801   PMID:1737848   PMID:1752947   PMID:1969408   PMID:1975597   PMID:2010533   PMID:2038366   PMID:2110364  
PMID:2121025   PMID:2243796   PMID:2294743   PMID:2340307   PMID:2349938   PMID:2536938   PMID:2701938   PMID:2765475   PMID:3355847   PMID:3515966   PMID:3597382   PMID:3692485  
PMID:3823907   PMID:3973011   PMID:7510694   PMID:7592706   PMID:7592875   PMID:7647785   PMID:7686151   PMID:7713910   PMID:7753827   PMID:7806969   PMID:7818530   PMID:7906986  
PMID:7989348   PMID:8096693   PMID:8125298   PMID:8135797   PMID:8144523   PMID:8288243   PMID:8301230   PMID:8308035   PMID:8325986   PMID:8449037   PMID:8486765   PMID:8567671  
PMID:8956048   PMID:9183545   PMID:9298816   PMID:9374130   PMID:9401010   PMID:9430364   PMID:9519338   PMID:9662394   PMID:9719626   PMID:10085125   PMID:10391209   PMID:10660334  
PMID:10727238   PMID:11073182   PMID:11096142   PMID:11126401   PMID:11132601   PMID:11140837   PMID:11171287   PMID:11194013   PMID:11205691   PMID:11229437   PMID:11284423   PMID:11316129  
PMID:11341749   PMID:11342582   PMID:11395037   PMID:11427211   PMID:11441189   PMID:11484171   PMID:11500192   PMID:11533368   PMID:11534394   PMID:11579204   PMID:11593500   PMID:11605530  
PMID:11680797   PMID:11683775   PMID:11702052   PMID:11702219   PMID:11711487   PMID:11714857   PMID:11714860   PMID:11730816   PMID:11796707   PMID:11834518   PMID:11852057   PMID:11893776  
PMID:11893778   PMID:11897170   PMID:11899831   PMID:11921083   PMID:11947965   PMID:11996946   PMID:12032167   PMID:12042669   PMID:12044583   PMID:12082592   PMID:12107736   PMID:12117735  
PMID:12133533   PMID:12164879   PMID:12174215   PMID:12208477   PMID:12226739   PMID:12230584   PMID:12370850   PMID:12408999   PMID:12446192   PMID:12477932   PMID:12501246   PMID:12514935  
PMID:12544508   PMID:12573449   PMID:12636935   PMID:12647273   PMID:12655575   PMID:12679477   PMID:12687649   PMID:12690214   PMID:12701046   PMID:12704407   PMID:12732844   PMID:12740382  
PMID:12746411   PMID:12747600   PMID:12755701   PMID:12777470   PMID:12782148   PMID:12793009   PMID:12818414   PMID:12862202   PMID:12865761   PMID:12866915   PMID:12876415   PMID:12889841  
PMID:12905705   PMID:12915220   PMID:12919138   PMID:12964943   PMID:12966036   PMID:14553962   PMID:14564687   PMID:14570890   PMID:14580156   PMID:14580165   PMID:14581156   PMID:14660566  
PMID:14669227   PMID:14693718   PMID:14702039   PMID:14764824   PMID:14967813   PMID:14984315   PMID:14988233   PMID:14988305   PMID:15019539   PMID:15051515   PMID:15060087   PMID:15076187  
PMID:15115692   PMID:15135251   PMID:15155715   PMID:15178420   PMID:15189363   PMID:15202783   PMID:15221136   PMID:15253101   PMID:15256516   PMID:15257172   PMID:15270617   PMID:15292370  
PMID:15292372   PMID:15356086   PMID:15386377   PMID:15489334   PMID:15543643   PMID:15545743   PMID:15562208   PMID:15608561   PMID:15637076   PMID:15657615   PMID:15696473   PMID:15699916  
PMID:15721013   PMID:15749185   PMID:15764642   PMID:15793775   PMID:15795426   PMID:15802535   PMID:15857159   PMID:15858619   PMID:15878772   PMID:15896905   PMID:15928243   PMID:15939061  
PMID:15961789   PMID:15979432   PMID:15994321   PMID:16015281   PMID:16029634   PMID:16030523   PMID:16086925   PMID:16106048   PMID:16122151   PMID:16135440   PMID:16141008   PMID:16142021  
PMID:16168296   PMID:16169070   PMID:16179346   PMID:16195478   PMID:16205020   PMID:16253639   PMID:16256241   PMID:16343038   PMID:16344560   PMID:16353345   PMID:16357806   PMID:16364275  
PMID:16369102   PMID:16378107   PMID:16416313   PMID:16418216   PMID:16419488   PMID:16430904   PMID:16446009   PMID:16449872   PMID:16451134   PMID:16460718   PMID:16466345   PMID:16502470  
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PMID:17997385   PMID:18020971   PMID:18068174   PMID:18175800   PMID:18187430   PMID:18187620   PMID:18193043   PMID:18193044   PMID:18193046   PMID:18223635   PMID:18242618   PMID:18275685  
PMID:18275964   PMID:18325076   PMID:18336668   PMID:18354102   PMID:18449420   PMID:18454146   PMID:18494281   PMID:18513389   PMID:18534873   PMID:18535540   PMID:18590804   PMID:18596051  
PMID:18603820   PMID:18616755   PMID:18619685   PMID:18635818   PMID:18636124   PMID:18649389   PMID:18660489   PMID:18676680   PMID:18681781   PMID:18693040   PMID:18724972   PMID:18821565  
PMID:18922999   PMID:18927546   PMID:18986377   PMID:18996102   PMID:19004026   PMID:19018513   PMID:19028676   PMID:19034041   PMID:19034316   PMID:19052449   PMID:19060906   PMID:19060910  
PMID:19060911   PMID:19099922   PMID:19131662   PMID:19148283   PMID:19155782   PMID:19167106   PMID:19170196   PMID:19185650   PMID:19191728   PMID:19207029   PMID:19246456   PMID:19254215  
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PMID:19766899   PMID:19772655   PMID:19773416   PMID:19780863   PMID:19818126   PMID:19834535   PMID:19875996   PMID:19878569   PMID:19884647   PMID:19888660   PMID:19899640   PMID:19910634  
PMID:19913121   PMID:19936222   PMID:19948975   PMID:19956635   PMID:20031538   PMID:20031551   PMID:20031591   PMID:20075597   PMID:20092038   PMID:20099167   PMID:20108206   PMID:20124439  
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Genomics

Comparative Map Data
LPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38819,939,253 - 19,967,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl819,901,717 - 19,967,259 (+)EnsemblGRCh38hg38GRCh38
GRCh37819,796,764 - 19,824,770 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36819,840,862 - 19,869,050 (+)NCBINCBI36Build 36hg18NCBI36
Build 34819,841,057 - 19,869,049NCBI
Celera818,759,678 - 18,787,858 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef818,336,820 - 18,365,002 (+)NCBIHuRef
CHM1_1819,998,390 - 20,026,574 (+)NCBICHM1_1
T2T-CHM13v2.0820,204,296 - 20,232,297 (+)NCBIT2T-CHM13v2.0
Lpl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39869,333,207 - 69,359,584 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl869,333,143 - 69,360,100 (+)EnsemblGRCm39 Ensembl
GRCm38868,880,555 - 68,906,932 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl868,880,491 - 68,907,448 (+)EnsemblGRCm38mm10GRCm38
MGSCv37871,404,454 - 71,430,831 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36871,809,543 - 71,835,921 (+)NCBIMGSCv36mm8
Celera871,423,790 - 71,450,108 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map833.88NCBI
Lpl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81625,596,205 - 25,621,928 (-)NCBIGRCr8
mRatBN7.21620,830,055 - 20,853,855 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1620,829,465 - 20,855,249 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1624,205,897 - 24,229,703 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01627,628,201 - 27,652,035 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01623,571,205 - 23,595,012 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01622,537,687 - 22,561,487 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1622,537,056 - 22,561,496 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01622,432,084 - 22,455,950 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41622,533,105 - 22,556,905 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11622,532,512 - 22,556,890 (-)NCBI
Celera1620,988,473 - 21,012,282 (-)NCBICelera
RH 3.4 Map16252.82RGD
Cytogenetic Map16p14NCBI
Lpl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540343,646,084 - 43,673,967 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540343,646,084 - 43,672,116 (+)NCBIChiLan1.0ChiLan1.0
LPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2738,421,240 - 38,449,424 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1814,146,772 - 14,174,992 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0819,164,541 - 19,193,100 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1816,113,415 - 16,142,113 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl816,113,415 - 16,142,966 (+)Ensemblpanpan1.1panPan2
LPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12537,078,306 - 37,102,729 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2537,079,756 - 37,102,700 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2537,670,851 - 37,695,657 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02537,307,488 - 37,333,689 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2537,305,811 - 37,333,670 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12537,243,904 - 37,268,469 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02537,086,270 - 37,110,850 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02537,256,141 - 37,280,964 (-)NCBIUU_Cfam_GSD_1.0
Lpl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494314,462,292 - 14,486,414 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365554,084,099 - 4,108,365 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365554,084,099 - 4,108,219 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl144,104,772 - 4,135,814 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1144,104,761 - 4,134,964 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap14q12-q14NCBI
LPL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1818,009,049 - 18,038,315 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl818,009,093 - 18,038,598 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605224,205,476 - 24,235,020 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lpl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475815,651,992 - 15,680,762 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475815,652,553 - 15,680,107 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LPL
719 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000237.3(LPL):c.*1671T>C single nucleotide variant High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000033176]|Hyperlipoproteinemia, type I [RCV000353989]|not provided [RCV001519438] Chr8:19966981 [GRCh38]
Chr8:19824492 [GRCh37]
Chr8:8p21.3
association|benign
NM_000237.3(LPL):c.607G>A (p.Ala203Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001583] Chr8:19954185 [GRCh38]
Chr8:19811696 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, INS insertion Hyperlipoproteinemia, type I [RCV000001584] Chr8:8p22 pathogenic
NM_000237.3(LPL):c.898_1019-1234dup duplication Hyperlipoproteinemia, type I [RCV000001585] Chr8:19955962..19955963 [GRCh38]
Chr8:19813473..19813474 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) single nucleotide variant Cardiovascular phenotype [RCV002362549]|Hyperlipidemia, familial combined, LPL related [RCV000763181]|Hyperlipidemia, familial combined, LPL related [RCV001248904]|Hyperlipoproteinemia, type I [RCV000001586]|LPL-related disorder [RCV003415622]|not provided [RCV000521241] Chr8:19954222 [GRCh38]
Chr8:19811733 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NG_008855.2:g.(51625_55052)_(57638_59124)del deletion Hyperlipoproteinemia, type I [RCV000001587] Chr8:8p22 pathogenic
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001588]|not provided [RCV001385518] Chr8:19951916 [GRCh38]
Chr8:19809427 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.811T>A (p.Ser271Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001589] Chr8:19955876 [GRCh38]
Chr8:19813387 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.250-1G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000001590] Chr8:19951768 [GRCh38]
Chr8:19809279 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) single nucleotide variant Cardiovascular phenotype [RCV002362550]|Hyperlipidemia, familial combined, LPL related [RCV001253353]|Hyperlipoproteinemia, type I [RCV000001591]|LPL-related disorder [RCV003964785]|not provided [RCV001851555] Chr8:19954279 [GRCh38]
Chr8:19811790 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.693C>G (p.Asp231Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001592] Chr8:19954271 [GRCh38]
Chr8:19811782 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) single nucleotide variant Cardiovascular phenotype [RCV003298025]|Hyperlipidemia, familial combined, LPL related [RCV001248903]|Hyperlipoproteinemia, type I [RCV000001593]|not provided [RCV001388969] Chr8:19954240 [GRCh38]
Chr8:19811751 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.809G>A (p.Arg270His) single nucleotide variant Cardiovascular phenotype [RCV002415385]|Hyperlipidemia, familial combined, LPL related [RCV001248901]|Hyperlipoproteinemia, type I [RCV000001594]|not provided [RCV000497435] Chr8:19955874 [GRCh38]
Chr8:19813385 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|uncertain significance
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001595]|not provided [RCV003555886] Chr8:19951819 [GRCh38]
Chr8:19809330 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.506G>A (p.Gly169Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001596] Chr8:19953386 [GRCh38]
Chr8:19810897 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.548A>G (p.Asp183Gly) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001597] Chr8:19954126 [GRCh38]
Chr8:19811637 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) single nucleotide variant Cardiovascular phenotype [RCV002390085]|Hyperlipidemia, familial combined, LPL related [RCV002504735]|Hyperlipoproteinemia, type I [RCV000385586]|LIPOPROTEIN LIPASE POLYMORPHISM [RCV000001598]|LPL-related disorder [RCV003974788]|not provided [RCV001511819]|not specified [RCV001804709] Chr8:19962213 [GRCh38]
Chr8:19962213..19962214 [GRCh38]
Chr8:19819724 [GRCh37]
Chr8:19819724..19819725 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.249+1G>A single nucleotide variant Cardiovascular phenotype [RCV002426478]|Hyperlipidemia, familial combined, LPL related [RCV001537867]|Hyperlipoproteinemia, type I [RCV000001599]|not provided [RCV001236175] Chr8:19948341 [GRCh38]
Chr8:19805852 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) single nucleotide variant Cardiovascular phenotype [RCV002453245]|Hyperlipoproteinemia, type I [RCV000001600] Chr8:19951783 [GRCh38]
Chr8:19809294 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002504736]|Hyperlipoproteinemia, type I [RCV000001601] Chr8:19960988 [GRCh38]
Chr8:19818499 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.742del (p.Ala248fs) deletion Hyperlipoproteinemia, type I [RCV000001602]|Lpl-arita [RCV000001603] Chr8:19954320 [GRCh38]
Chr8:19811831 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) single nucleotide variant Cardiovascular phenotype [RCV002426479]|Hyperlipidemia, familial combined, LPL related [RCV002476909]|Hyperlipoproteinemia, type I [RCV000001604]|not provided [RCV001059212] Chr8:19955894 [GRCh38]
Chr8:19813405 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001197456]|Hyperlipoproteinemia, type I [RCV000001605]|not provided [RCV001851556] Chr8:19951856 [GRCh38]
Chr8:19809367 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001813730]|Hyperlipoproteinemia, type I [RCV000001606]|not provided [RCV001385517] Chr8:19951791 [GRCh38]
Chr8:19809302 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.88+1G>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000001607] Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002247233]|Hyperlipoproteinemia, type I [RCV000001608] Chr8:19959322 [GRCh38]
Chr8:19816833 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.596C>G (p.Ser199Cys) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001609] Chr8:19954174 [GRCh38]
Chr8:19811685 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.306A>C (p.Arg102Ser) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001610]|not provided [RCV003555887] Chr8:19951825 [GRCh38]
Chr8:19809336 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.665G>A (p.Gly222Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001611] Chr8:19954243 [GRCh38]
Chr8:19811754 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.621C>G (p.Asp207Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001612]|not provided [RCV001851557] Chr8:19954199 [GRCh38]
Chr8:19811710 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) single nucleotide variant Cardiovascular phenotype [RCV002415386]|Hyperlipoproteinemia, type I [RCV000001613]|LPL-related disorder [RCV003894783]|not provided [RCV001055155] Chr8:19955873 [GRCh38]
Chr8:19813384 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.-227T>C single nucleotide variant Hyperlipidemia, familial combined, susceptibility to [RCV000001614]|not specified [RCV004689400] Chr8:19939214 [GRCh38]
Chr8:19796725 [GRCh37]
Chr8:8p21.3
pathogenic|risk factor|uncertain significance
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) single nucleotide variant Cardiovascular phenotype [RCV002371753]|Hyperlipidemia, familial combined, LPL related [RCV000001615]|Hyperlipidemia, familial combined, LPL related [RCV002467488]|Hyperlipidemia, familial combined, susceptibility to [RCV000781944]|Hyperlipoproteinemia, type I [RCV000988041]|not provided [RCV001356263]|not specified [RCV002222335] Chr8:19956018 [GRCh38]
Chr8:19813529 [GRCh37]
Chr8:8p21.3
pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000237.3(LPL):c.1174C>G (p.Leu392Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001616] Chr8:19960935 [GRCh38]
Chr8:19818446 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) single nucleotide variant Cardiovascular phenotype [RCV002408446]|Coronary heart disease [RCV000157298]|Hyperlipidemia, familial combined, susceptibility to [RCV000001617]|Hyperlipoproteinemia, type I [RCV000352575]|LPL-related disorder [RCV003924794]|not provided [RCV000733476]|not specified [RCV000454647] Chr8:19948197 [GRCh38]
Chr8:19948197..19948198 [GRCh38]
Chr8:19805708 [GRCh37]
Chr8:19805708..19805709 [GRCh37]
Chr8:8p21.3
pathogenic|risk factor|benign|likely benign|other
NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001618] Chr8:19962126 [GRCh38]
Chr8:19819637 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001619]|not provided [RCV001039273] Chr8:19954333 [GRCh38]
Chr8:19811844 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, -93T-G, PROMOTER single nucleotide variant Hyperlipidemia, familial combined, susceptibility to [RCV000001620] Chr8:8p22 pathogenic|risk factor
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001621]|LIPOPROTEIN LIPASE (OLBIA) [RCV000001622] Chr8:19956052 [GRCh38]
Chr8:19813563 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.798C>G (p.Cys266Trp) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001623] Chr8:19955863 [GRCh38]
Chr8:19813374 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, 1-BP DEL, CODON 172 deletion Hyperlipoproteinemia, type I [RCV000001624] Chr8:8p22 pathogenic
NM_000237.3(LPL):c.1323-187A>G single nucleotide variant High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000001625]|not provided [RCV001618206] Chr8:19961928 [GRCh38]
Chr8:19819439 [GRCh37]
Chr8:8p21.3
association|benign
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_000237.3(LPL):c.*364A>C single nucleotide variant not provided [RCV000106287] Chr8:19965674 [GRCh38]
Chr8:19823185 [GRCh37]
Chr8:8p21.3
not provided
NM_000237.3(LPL):c.702G>A (p.Pro234=) single nucleotide variant Cardiovascular phenotype [RCV004641638]|not provided [RCV001412335] Chr8:19954280 [GRCh38]
Chr8:19811791 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1306G>A (p.Gly436Arg) single nucleotide variant Hyperlipoproteinemia, type I [RCV000145429] Chr8:19961067 [GRCh38]
Chr8:19818578 [GRCh37]
Chr8:8p21.3
not provided
NM_000237.3(LPL):c.1302A>T (p.Lys434Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV000145433] Chr8:19961063 [GRCh38]
Chr8:19818574 [GRCh37]
Chr8:8p21.3
not provided
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p21.3(chr8:19864924-20015601)x1 copy number loss See cases [RCV000134935] Chr8:19864924..20015601 [GRCh38]
Chr8:19722435..19873112 [GRCh37]
Chr8:19766715..19917392 [NCBI36]
Chr8:8p21.3
likely benign
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
NM_000237.3(LPL):c.928T>C (p.Cys310Arg) single nucleotide variant Hyperlipoproteinemia, type I [RCV000258506] Chr8:19955993 [GRCh38]
Chr8:19813504 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) single nucleotide variant Cardiovascular phenotype [RCV004020588]|Hyperlipoproteinemia, type I [RCV000258507]|not specified [RCV004586631] Chr8:19960948 [GRCh38]
Chr8:19818459 [GRCh37]
Chr8:8p21.3
likely pathogenic|uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000625872] Chr8:19955862 [GRCh38]
Chr8:19813373 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.678A>G (p.Pro226=) single nucleotide variant Cardiovascular phenotype [RCV002365429]|Hyperlipoproteinemia, type I [RCV000267552]|not provided [RCV000589102] Chr8:19954256 [GRCh38]
Chr8:19811767 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_000237.3(LPL):c.*1308G>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000302261] Chr8:19966618 [GRCh38]
Chr8:19824129 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.435G>A (p.Glu145=) single nucleotide variant Cardiovascular phenotype [RCV002328878]|Hyperlipoproteinemia, type I [RCV000302825]|not provided [RCV000587704] Chr8:19953315 [GRCh38]
Chr8:19810826 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*688G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000304405]|not provided [RCV004705457] Chr8:19965998 [GRCh38]
Chr8:19823509 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*371T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000347555]|not provided [RCV001519434] Chr8:19965681 [GRCh38]
Chr8:19823192 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*9G>A single nucleotide variant Dystrophin deficiency [RCV001275351]|Hyperlipoproteinemia, type I [RCV000372157]|not provided [RCV000589807] Chr8:19965319 [GRCh38]
Chr8:19822830 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1164C>A (p.Thr388=) single nucleotide variant Cardiovascular phenotype [RCV002323564]|Hyperlipoproteinemia, type I [RCV000271225]|not provided [RCV001519924]|not specified [RCV003230489] Chr8:19960925 [GRCh38]
Chr8:19818436 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1250A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000287008]|not provided [RCV001672702] Chr8:19966560 [GRCh38]
Chr8:19824071 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.-283G>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000288145]|not provided [RCV001545856] Chr8:19939158 [GRCh38]
Chr8:19796669 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NC_000008.11:g.19939160T>G single nucleotide variant Hyperlipidemia, familial combined, susceptibility to [RCV001823726]|Hyperlipoproteinemia, type I [RCV000326637]|not provided [RCV001512925] Chr8:19939160 [GRCh38]
Chr8:19796671 [GRCh37]
Chr8:8p21.3
risk factor|benign
NM_000237.3(LPL):c.-71C>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000349263] Chr8:19939370 [GRCh38]
Chr8:19796881 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) single nucleotide variant Cardiovascular phenotype [RCV002374601]|Hyperlipoproteinemia, type I [RCV000328685]|not provided [RCV000586674]|not specified [RCV002282126] Chr8:19961040 [GRCh38]
Chr8:19818551 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1167C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000290645]|not provided [RCV003430949] Chr8:19966477 [GRCh38]
Chr8:19823988 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*448C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000307917] Chr8:19965758 [GRCh38]
Chr8:19823269 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*1846C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000329468]|not provided [RCV001637000] Chr8:19967156 [GRCh38]
Chr8:19824667 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.*1824T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000274354] Chr8:19967134 [GRCh38]
Chr8:19824645 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1142C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000330982]|not provided [RCV001618661] Chr8:19966452 [GRCh38]
Chr8:19823963 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1563_*1567del deletion Hyperlipoproteinemia, type I [RCV000402498] Chr8:19966873..19966877 [GRCh38]
Chr8:19824384..19824388 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1039G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000275863] Chr8:19966349 [GRCh38]
Chr8:19823860 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.405G>A (p.Val135=) single nucleotide variant Cardiovascular phenotype [RCV002323563]|Dystrophin deficiency [RCV001273359]|Hyperlipoproteinemia, type I [RCV000356200]|not provided [RCV000590676] Chr8:19951924 [GRCh38]
Chr8:19809435 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1224C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000381447]|not provided [RCV001662342] Chr8:19966534 [GRCh38]
Chr8:19824045 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.430-6C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000404936]|not provided [RCV000590669] Chr8:19953304 [GRCh38]
Chr8:19810815 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*853C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000260478]|not provided [RCV004712551] Chr8:19966163 [GRCh38]
Chr8:19966163..19966164 [GRCh38]
Chr8:19823674 [GRCh37]
Chr8:19823674..19823675 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1742T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000277765]|not provided [RCV001519439] Chr8:19967052 [GRCh38]
Chr8:19824563 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*796A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000359144]|not provided [RCV004712550] Chr8:19966106 [GRCh38]
Chr8:19823617 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1159C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000385544] Chr8:19966469 [GRCh38]
Chr8:19823980 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1291G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000407283] Chr8:19966601 [GRCh38]
Chr8:19824112 [GRCh37]
Chr8:8p21.3
benign|uncertain significance
NM_000237.3(LPL):c.*1783A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000314390]|not provided [RCV004712552] Chr8:19967093 [GRCh38]
Chr8:19824604 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1416T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000338425] Chr8:19966726 [GRCh38]
Chr8:19824237 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*949G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000389011] Chr8:19966259 [GRCh38]
Chr8:19823770 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*8C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000317564] Chr8:19965318 [GRCh38]
Chr8:19822829 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.786G>A (p.Gln262=) single nucleotide variant Cardiovascular phenotype [RCV002411259]|Hyperlipoproteinemia, type I [RCV000363410]|LPL-related disorder [RCV003922625]|not provided [RCV000900433]|not specified [RCV000586149] Chr8:19955851 [GRCh38]
Chr8:19813362 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*1848C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000364517]|not provided [RCV001536913] Chr8:19967158 [GRCh38]
Chr8:19824669 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1660G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000299090] Chr8:19966970 [GRCh38]
Chr8:19824481 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.333G>T (p.Val111=) single nucleotide variant Cardiovascular phenotype [RCV003362769]|Hyperlipoproteinemia, type I [RCV000299093]|not provided [RCV002058714] Chr8:19951852 [GRCh38]
Chr8:19809363 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*827A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000300463]|not provided [RCV001636999] Chr8:19966137 [GRCh38]
Chr8:19823648 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.*414_*418del deletion Hyperlipoproteinemia, type I [RCV000392893]|not provided [RCV001519436] Chr8:19965722..19965726 [GRCh38]
Chr8:19823233..19823237 [GRCh37]
Chr8:8p21.3
benign|uncertain significance
NM_000237.3(LPL):c.1416_1417insT (p.Lys473Ter) insertion Hyperlipoproteinemia, type I [RCV000262393] Chr8:19962208..19962209 [GRCh38]
Chr8:19819719..19819720 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*824dup duplication Hyperlipoproteinemia, type I [RCV000264407] Chr8:19966123..19966124 [GRCh38]
Chr8:19823634..19823635 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1214G>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000345574] Chr8:19966524 [GRCh38]
Chr8:19824035 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.2(LPL):c.-299T>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000380234] Chr8:19939142 [GRCh38]
Chr8:19796653 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.88+3A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV003314395] Chr8:19939531 [GRCh38]
Chr8:19797042 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-136T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000292071] Chr8:19939305 [GRCh38]
Chr8:19796816 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*309A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000292798] Chr8:19965619 [GRCh38]
Chr8:19823130 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*884A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000315695] Chr8:19966194 [GRCh38]
Chr8:19823705 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-172_-171dup duplication Hyperlipoproteinemia, type I [RCV000383605]|not provided [RCV001513132] Chr8:19939265..19939266 [GRCh38]
Chr8:19796776..19796777 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_000237.3(LPL):c.260T>C (p.Met87Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000402506] Chr8:19951779 [GRCh38]
Chr8:19809290 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*677T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000404384] Chr8:19965987 [GRCh38]
Chr8:19823498 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-38C>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000295630] Chr8:19939403 [GRCh38]
Chr8:19796914 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*262G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000351257] Chr8:19965572 [GRCh38]
Chr8:19823083 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1806_*1807insTT insertion Hyperlipoproteinemia, type I [RCV000369035]|not provided [RCV001519573] Chr8:19967115..19967116 [GRCh38]
Chr8:19824626..19824627 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*290_*293del deletion Hyperlipoproteinemia, type I [RCV000387033] Chr8:19965597..19965600 [GRCh38]
Chr8:19823108..19823111 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*222A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000296325] Chr8:19965532 [GRCh38]
Chr8:19823043 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*846G>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000355328] Chr8:19966156 [GRCh38]
Chr8:19823667 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-49C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000392250] Chr8:19939392 [GRCh38]
Chr8:19796903 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1279G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000341905] Chr8:19966589 [GRCh38]
Chr8:19824100 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.478C>T (p.Leu160Phe) single nucleotide variant Hyperlipoproteinemia, type I [RCV000359828] Chr8:19953358 [GRCh38]
Chr8:19810869 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*544A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000344131] Chr8:19965854 [GRCh38]
Chr8:19823365 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.429+20A>C single nucleotide variant not provided [RCV000587120] Chr8:19951968 [GRCh38]
Chr8:19809479 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.89-10del deletion not provided [RCV000587541]|not specified [RCV004701678] Chr8:19948166 [GRCh38]
Chr8:19805677 [GRCh37]
Chr8:8p21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.213C>G (p.His71Gln) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272627]|LPL-related disorder [RCV003980065]|not provided [RCV000588713]|not specified [RCV004767424] Chr8:19948304 [GRCh38]
Chr8:19805815 [GRCh37]
Chr8:8p21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) single nucleotide variant Cardiovascular phenotype [RCV002325119]|Hyperlipoproteinemia, type I [RCV001164213]|LPL-related disorder [RCV003915681]|not provided [RCV000588862]|not specified [RCV002282248] Chr8:19959376 [GRCh38]
Chr8:19816887 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1018+16T>C single nucleotide variant not provided [RCV000586872] Chr8:19956099 [GRCh38]
Chr8:19813610 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) single nucleotide variant Cardiovascular phenotype [RCV002448819]|Hyperlipoproteinemia, type I [RCV001164214]|LPL-related disorder [RCV003905506]|not provided [RCV000589644] Chr8:19959377 [GRCh38]
Chr8:19816888 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
NM_000237.3(LPL):c.904T>C (p.Cys302Arg) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV000487457] Chr8:19955969 [GRCh38]
Chr8:19813480 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.3(chr8:19108471-19816839)x3 copy number gain See cases [RCV000511994] Chr8:19108471..19816839 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000237.3(LPL):c.653G>A (p.Gly218Asp) single nucleotide variant Cardiovascular phenotype [RCV003283623] Chr8:19954231 [GRCh38]
Chr8:19811742 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV001250244]|Hypertriglyceridemia [RCV001248902]|not provided [RCV000627361] Chr8:19955849 [GRCh38]
Chr8:19813360 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|uncertain significance
NM_000237.3(LPL):c.203A>G (p.His68Arg) single nucleotide variant Cardiovascular phenotype [RCV003296601] Chr8:19948294 [GRCh38]
Chr8:19805805 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.590G>A (p.Arg197His) single nucleotide variant Cardiovascular phenotype [RCV002358745]|Hyperlipidemia, familial combined, LPL related [RCV001249092]|not provided [RCV001860433]|not specified [RCV001420845] Chr8:19954168 [GRCh38]
Chr8:19811679 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3 copy number gain not provided [RCV000683000] Chr8:19686384..20484203 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000237.3(LPL):c.347G>A (p.Arg116Gln) single nucleotide variant Hyperlipoproteinemia, type I [RCV001580615] Chr8:19951866 [GRCh38]
Chr8:19809377 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.290C>T (p.Ala97Val) single nucleotide variant Cardiovascular phenotype [RCV002434191]|Hyperlipoproteinemia, type I [RCV001160569]|not provided [RCV000897052] Chr8:19951809 [GRCh38]
Chr8:19809320 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.132G>T (p.Arg44Ser) single nucleotide variant Hyperlipoproteinemia, type I [RCV001580730] Chr8:19948223 [GRCh38]
Chr8:19805734 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1421C>A (p.Ser474Ter) single nucleotide variant not provided [RCV000978630] Chr8:19962213 [GRCh38]
Chr8:19819724 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000237.3(LPL):c.*903C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001164320] Chr8:19966213 [GRCh38]
Chr8:19823724 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1891T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164440] Chr8:19967201 [GRCh38]
Chr8:19824712 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.835C>G (p.Leu279Val) single nucleotide variant Cardiovascular phenotype [RCV004031932]|Hyperlipidemia, familial combined, LPL related [RCV002505628]|Hyperlipoproteinemia, type I [RCV001806006]|not provided [RCV001060882] Chr8:19955900 [GRCh38]
Chr8:19813411 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.423G>C (p.Trp141Cys) single nucleotide variant not provided [RCV001585037] Chr8:19951942 [GRCh38]
Chr8:19809453 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.798C>T (p.Cys266=) single nucleotide variant Cardiovascular phenotype [RCV002409143]|Hyperlipoproteinemia, type I [RCV001836001]|LPL-related disorder [RCV003920771]|not provided [RCV000891894]|not specified [RCV004702507] Chr8:19955863 [GRCh38]
Chr8:19813374 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1107C>T (p.Thr369=) single nucleotide variant Cardiovascular phenotype [RCV003363031]|not provided [RCV000975777] Chr8:19959348 [GRCh38]
Chr8:19816859 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.15C>T (p.Ala5=) single nucleotide variant not provided [RCV000941890] Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1140-7T>G single nucleotide variant not provided [RCV000928318] Chr8:19960894 [GRCh38]
Chr8:19818405 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1170C>T (p.Ser390=) single nucleotide variant not provided [RCV000944468] Chr8:19960931 [GRCh38]
Chr8:19818442 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.900G>A (p.Gly300=) single nucleotide variant Cardiovascular phenotype [RCV003363011]|Hyperlipoproteinemia, type I [RCV001826935]|not provided [RCV000927868] Chr8:19955965 [GRCh38]
Chr8:19813476 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1074C>T (p.Thr358=) single nucleotide variant Cardiovascular phenotype [RCV002416260]|not provided [RCV000982364] Chr8:19959315 [GRCh38]
Chr8:19816826 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.528C>G (p.Val176=) single nucleotide variant Cardiovascular phenotype [RCV002346095]|Hyperlipoproteinemia, type I [RCV001162184]|not provided [RCV000924621] Chr8:19953408 [GRCh38]
Chr8:19810919 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.998G>A (p.Arg333His) single nucleotide variant Cardiovascular phenotype [RCV002386360]|Hyperlipidemia, familial combined, LPL related [RCV002249478]|Hyperlipoproteinemia, type I [RCV000778928]|not provided [RCV001592959] Chr8:19956063 [GRCh38]
Chr8:19813574 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.1428-6del deletion not provided [RCV000942705] Chr8:19965300 [GRCh38]
Chr8:19822811 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.717T>C (p.Phe239=) single nucleotide variant not provided [RCV000941546] Chr8:19954295 [GRCh38]
Chr8:19811806 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+10G>A single nucleotide variant not provided [RCV000982359] Chr8:19951958 [GRCh38]
Chr8:19809469 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) single nucleotide variant Cardiovascular phenotype [RCV003169444]|Hyperlipidemia, familial combined, LPL related [RCV002468098]|Hyperlipoproteinemia, type I [RCV001164216]|LPL-related disorder [RCV003925850]|not provided [RCV000944561]|not specified [RCV003396555] Chr8:19962117 [GRCh38]
Chr8:19819628 [GRCh37]
Chr8:8p21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.189C>T (p.Ser63=) single nucleotide variant Cardiovascular phenotype [RCV002409245]|Hyperlipoproteinemia, type I [RCV001159218]|LPL-related disorder [RCV003978124]|not provided [RCV000943026]|not specified [RCV003331004] Chr8:19948280 [GRCh38]
Chr8:19805791 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1128C>T (p.Ile376=) single nucleotide variant Cardiovascular phenotype [RCV002320093]|Hyperlipoproteinemia, type I [RCV001832083]|LPL-related disorder [RCV003903012]|not provided [RCV000922527]|not specified [RCV003330997] Chr8:19959369 [GRCh38]
Chr8:19816880 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1019-6C>T single nucleotide variant not provided [RCV000979502] Chr8:19959254 [GRCh38]
Chr8:19816765 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.111C>T (p.Ile37=) single nucleotide variant Cardiovascular phenotype [RCV002434350]|Hyperlipoproteinemia, type I [RCV001272626]|LPL-related disorder [RCV003953371]|not provided [RCV000979499]|not specified [RCV003331011] Chr8:19948202 [GRCh38]
Chr8:19805713 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.57C>A (p.Thr19=) single nucleotide variant not provided [RCV000979571] Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1338T>C (p.Ser446=) single nucleotide variant Cardiovascular phenotype [RCV002382199]|Hyperlipidemia, familial combined, LPL related [RCV002503109]|Hyperlipoproteinemia, type I [RCV001832228]|not provided [RCV000975928] Chr8:19962130 [GRCh38]
Chr8:19819641 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.276G>A (p.Val92=) single nucleotide variant Cardiovascular phenotype [RCV002434302]|Hyperlipoproteinemia, type I [RCV001272628]|not provided [RCV000944208] Chr8:19951795 [GRCh38]
Chr8:19809306 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_000237.3(LPL):c.1368A>C (p.Gly456=) single nucleotide variant Cardiovascular phenotype [RCV002382111]|not provided [RCV000931921] Chr8:19962160 [GRCh38]
Chr8:19819671 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) single nucleotide variant Cardiovascular phenotype [RCV003169360]|Dilated cardiomyopathy 1A [RCV002472376]|Hyperlipoproteinemia, type I [RCV001159216]|not provided [RCV000932549]|not specified [RCV002271598] Chr8:19948203 [GRCh38]
Chr8:19805714 [GRCh37]
Chr8:8p21.3
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.1146A>G (p.Glu382=) single nucleotide variant not provided [RCV000941301] Chr8:19960907 [GRCh38]
Chr8:19818418 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-9C>T single nucleotide variant not provided [RCV000916177] Chr8:19948171 [GRCh38]
Chr8:19805682 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.699C>T (p.Tyr233=) single nucleotide variant Cardiovascular phenotype [RCV002363491]|not provided [RCV000976571] Chr8:19954277 [GRCh38]
Chr8:19811788 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.345A>C (p.Ser115=) single nucleotide variant Cardiovascular phenotype [RCV002454069]|Hyperlipoproteinemia, type I [RCV001160570]|not provided [RCV000893020]|not specified [RCV003323758] Chr8:19951864 [GRCh38]
Chr8:19809375 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000237.3(LPL):c.41G>A (p.Trp14Ter) single nucleotide variant not provided [RCV000796878] Chr8:19939481 [GRCh38]
Chr8:19796992 [GRCh37]
Chr8:8p21.3
pathogenic
GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1 copy number loss not provided [RCV000846804] Chr8:19604406..20174467 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) single nucleotide variant Cardiovascular phenotype [RCV002348586]|Hyperlipoproteinemia, type I [RCV001164215] Chr8:19960957 [GRCh38]
Chr8:19818468 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.519T>C (p.Asn173=) single nucleotide variant not provided [RCV000942604] Chr8:19953399 [GRCh38]
Chr8:19810910 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 copy number loss not provided [RCV000847806] Chr8:18266233..20864195 [GRCh37]
Chr8:8p22-21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:19731374-20266121)x3 copy number gain not provided [RCV000850024] Chr8:19731374..20266121 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.289_294delinsTTTGCCAAAA (p.Ala97fs) indel not provided [RCV001243163] Chr8:19951808..19951813 [GRCh38]
Chr8:19809319..19809324 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.94_98del (p.Arg32fs) deletion not provided [RCV001222007] Chr8:19948182..19948186 [GRCh38]
Chr8:19805693..19805697 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.640A>T (p.Arg214Ter) single nucleotide variant not provided [RCV001219282] Chr8:19954218 [GRCh38]
Chr8:19811729 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.*1928T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164441] Chr8:19967238 [GRCh38]
Chr8:19824749 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.81C>A (p.Ala27=) single nucleotide variant Cardiovascular phenotype [RCV002429780]|Hyperlipoproteinemia, type I [RCV001159215]|not provided [RCV001397205] Chr8:19939521 [GRCh38]
Chr8:19797032 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*1373G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159401] Chr8:19966683 [GRCh38]
Chr8:19824194 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1399G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001160769] Chr8:19966709 [GRCh38]
Chr8:19824220 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1414C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001160770] Chr8:19966724 [GRCh38]
Chr8:19824235 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1547T>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001160771] Chr8:19966857 [GRCh38]
Chr8:19824368 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1048A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164321] Chr8:19966358 [GRCh38]
Chr8:19823869 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.818A>C (p.His273Pro) single nucleotide variant Hyperlipoproteinemia, type I [RCV003127227] Chr8:19955883 [GRCh38]
Chr8:19813394 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) single nucleotide variant Cardiovascular phenotype [RCV002440807]|Hyperlipidemia, familial combined, LPL related [RCV002501917]|Hyperlipoproteinemia, type I [RCV001827495]|LPL-related disorder [RCV003405720]|not provided [RCV001568938] Chr8:19951811 [GRCh38]
Chr8:19809322 [GRCh37]
Chr8:8p21.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000237.3(LPL):c.1394G>C (p.Cys465Ser) single nucleotide variant Hyperlipoproteinemia, type I [RCV001578664] Chr8:19962186 [GRCh38]
Chr8:19819697 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.190G>A (p.Val64Met) single nucleotide variant Hyperlipoproteinemia, type I [RCV001578665]|not provided [RCV003329409]|not specified [RCV002282567] Chr8:19948281 [GRCh38]
Chr8:19805792 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.88+40G>A single nucleotide variant not provided [RCV001575083] Chr8:19939568 [GRCh38]
Chr8:19797079 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1397A>C (p.His466Pro) single nucleotide variant not provided [RCV001560020] Chr8:19962189 [GRCh38]
Chr8:19819700 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.776-172G>A single nucleotide variant not provided [RCV001695988] Chr8:19955669 [GRCh38]
Chr8:19813180 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.659G>A (p.Ser220Asn) single nucleotide variant not provided [RCV002001766] Chr8:19954237 [GRCh38]
Chr8:19811748 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.430-34C>A single nucleotide variant not provided [RCV001614596] Chr8:19953276 [GRCh38]
Chr8:19810787 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.429+236T>C single nucleotide variant not provided [RCV001678889] Chr8:19952184 [GRCh38]
Chr8:19809695 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.775+37T>C single nucleotide variant not provided [RCV001540357] Chr8:19954390 [GRCh38]
Chr8:19811901 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.346C>A (p.Arg116=) single nucleotide variant not provided [RCV000944391] Chr8:19951865 [GRCh38]
Chr8:19809376 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.456T>C (p.Asn152=) single nucleotide variant Cardiovascular phenotype [RCV002336874]|Hyperlipoproteinemia, type I [RCV001160572]|not provided [RCV000894605]|not specified [RCV001701240] Chr8:19953336 [GRCh38]
Chr8:19810847 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.542-8C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001832118]|not provided [RCV000931755]|not specified [RCV003323762] Chr8:19954112 [GRCh38]
Chr8:19811623 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
NM_000237.3(LPL):c.804C>T (p.His268=) single nucleotide variant Cardiovascular phenotype [RCV002416160]|not provided [RCV000928366] Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3
likely benign
NC_000008.11:g.19939200G>C single nucleotide variant LPL-related disorder [RCV003942963]|not provided [RCV000942138]|not specified [RCV002249580] Chr8:19939200 [GRCh38]
Chr8:19796711 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.59C>T (p.Ala20Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272625]|LPL-related disorder [RCV003978088]|not provided [RCV000930734] Chr8:19939499 [GRCh38]
Chr8:19797010 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.687T>C (p.His229=) single nucleotide variant Cardiovascular phenotype [RCV002363371]|Hyperlipoproteinemia, type I [RCV001162186]|LPL-related disorder [RCV003923256]|not provided [RCV000918427]|not specified [RCV003330996] Chr8:19954265 [GRCh38]
Chr8:19811776 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1344G>A (p.Glu448=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001273604]|not provided [RCV000983285] Chr8:19962136 [GRCh38]
Chr8:19819647 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.-101C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001164120] Chr8:19939340 [GRCh38]
Chr8:19796851 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.134C>A (p.Thr45Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159217]|not provided [RCV002557361]|not specified [RCV002249741] Chr8:19948225 [GRCh38]
Chr8:19805736 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.249G>A (p.Thr83=) single nucleotide variant Cardiovascular phenotype [RCV004032838]|Hyperlipoproteinemia, type I [RCV001159219] Chr8:19948340 [GRCh38]
Chr8:19805851 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1373C>T (p.Ala458Val) single nucleotide variant Cardiovascular phenotype [RCV002379663]|Hyperlipoproteinemia, type I [RCV001164217] Chr8:19962165 [GRCh38]
Chr8:19819676 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1854T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164438] Chr8:19967164 [GRCh38]
Chr8:19824675 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1886G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001164439] Chr8:19967196 [GRCh38]
Chr8:19824707 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) single nucleotide variant Cardiovascular phenotype [RCV004031763]|Hyperlipoproteinemia, type I [RCV001809969]|not provided [RCV001055591] Chr8:19955901 [GRCh38]
Chr8:19813412 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1272C>T (p.Pro424=) single nucleotide variant Cardiovascular phenotype [RCV003169294]|Hyperlipoproteinemia, type I [RCV001272629]|not provided [RCV000914022] Chr8:19961033 [GRCh38]
Chr8:19818544 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.828C>T (p.Ile276=) single nucleotide variant Cardiovascular phenotype [RCV002427246]|not provided [RCV000890967] Chr8:19955893 [GRCh38]
Chr8:19813404 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-207del deletion not provided [RCV001620794] Chr8:19965103 [GRCh38]
Chr8:19822614 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.250-256C>G single nucleotide variant not provided [RCV001577423] Chr8:19951513 [GRCh38]
Chr8:19809024 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1401C>A (p.Asp467Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV001578621] Chr8:19962193 [GRCh38]
Chr8:19819704 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.721C>T (p.Pro241Ser) single nucleotide variant Hyperlipoproteinemia, type I [RCV001619762] Chr8:19954299 [GRCh38]
Chr8:19811810 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.775+33C>G single nucleotide variant not provided [RCV001644086] Chr8:19954386 [GRCh38]
Chr8:19811897 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.541+228T>C single nucleotide variant not provided [RCV001656598] Chr8:19953649 [GRCh38]
Chr8:19811160 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.776-53A>G single nucleotide variant not provided [RCV001654602] Chr8:19955788 [GRCh38]
Chr8:19813299 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1139+43T>C single nucleotide variant not provided [RCV001688083] Chr8:19959423 [GRCh38]
Chr8:19816934 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.542-214C>T single nucleotide variant not provided [RCV001654680] Chr8:19953906 [GRCh38]
Chr8:19811417 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p21.3(chr8:19334399-19809695)x3 copy number gain not provided [RCV001006086] Chr8:19334399..19809695 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.541+74T>C single nucleotide variant not provided [RCV001637538] Chr8:19953495 [GRCh38]
Chr8:19811006 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1322+179G>T single nucleotide variant not provided [RCV001656461] Chr8:19961262 [GRCh38]
Chr8:19818773 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.439A>C (p.Asn147His) single nucleotide variant Hyperlipoproteinemia, type I [RCV001160571] Chr8:19953319 [GRCh38]
Chr8:19810830 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*547T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001160675] Chr8:19965857 [GRCh38]
Chr8:19823368 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*729A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV001162287] Chr8:19966039 [GRCh38]
Chr8:19823550 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*831G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162288] Chr8:19966141 [GRCh38]
Chr8:19823652 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.501T>C (p.Ile167=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001162183]|not provided [RCV002067977] Chr8:19953381 [GRCh38]
Chr8:19810892 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1427+15C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159309]|not provided [RCV003769766] Chr8:19962234 [GRCh38]
Chr8:19819745 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*29G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159310] Chr8:19965339 [GRCh38]
Chr8:19822850 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.*135C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159311] Chr8:19965445 [GRCh38]
Chr8:19822956 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*221C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001159312] Chr8:19965531 [GRCh38]
Chr8:19823042 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1387T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001159402]|not provided [RCV004706046] Chr8:19966697 [GRCh38]
Chr8:19824208 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.*648A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001160676] Chr8:19965958 [GRCh38]
Chr8:19823469 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1394A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001160768] Chr8:19966704 [GRCh38]
Chr8:19824215 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.775+103C>T single nucleotide variant not provided [RCV001708226] Chr8:19954456 [GRCh38]
Chr8:19811967 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.89-196T>G single nucleotide variant not provided [RCV001671978] Chr8:19947984 [GRCh38]
Chr8:19805495 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.541+92TG[4] microsatellite not provided [RCV001533982] Chr8:19953512..19953513 [GRCh38]
Chr8:19811023..19811024 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1428-11C>T single nucleotide variant not provided [RCV001680143]|not specified [RCV001796692] Chr8:19965299 [GRCh38]
Chr8:19822810 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1018+73T>G single nucleotide variant not provided [RCV001709424] Chr8:19956156 [GRCh38]
Chr8:19813667 [GRCh37]
Chr8:8p21.3
benign
NC_000008.11:g.19967357G>A single nucleotide variant not provided [RCV001611621] Chr8:19967357 [GRCh38]
Chr8:19967357..19967358 [GRCh38]
Chr8:19824868 [GRCh37]
Chr8:19824868..19824869 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.542-130C>A single nucleotide variant not provided [RCV001546410] Chr8:19953990 [GRCh38]
Chr8:19811501 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+334C>G single nucleotide variant not provided [RCV001668755] Chr8:19956417 [GRCh38]
Chr8:19813928 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.648C>T (p.Ser216=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001162185]|not provided [RCV002559550] Chr8:19954226 [GRCh38]
Chr8:19811737 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*1743G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162391] Chr8:19967053 [GRCh38]
Chr8:19824564 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1749T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001162392] Chr8:19967059 [GRCh38]
Chr8:19824570 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1788T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001162393] Chr8:19967098 [GRCh38]
Chr8:19824609 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1797G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162395] Chr8:19967107 [GRCh38]
Chr8:19824618 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.430-125A>C single nucleotide variant not provided [RCV001547692] Chr8:19953185 [GRCh38]
Chr8:19810696 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.995C>T (p.Thr332Ile) single nucleotide variant not provided [RCV001574558] Chr8:19956060 [GRCh38]
Chr8:19813571 [GRCh37]
Chr8:8p21.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000237.3(LPL):c.1139+1G>A single nucleotide variant Cardiovascular phenotype [RCV002322168]|Hyperlipoproteinemia, type I [RCV001250243] Chr8:19959381 [GRCh38]
Chr8:19816892 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.36C>A (p.Ala12=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159214] Chr8:19939476 [GRCh38]
Chr8:19796987 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) insertion Hyperlipoproteinemia, type I [RCV001250245] Chr8:19960921..19960922 [GRCh38]
Chr8:19818432..19818433 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.*389C>G single nucleotide variant Hyperlipoproteinemia, type I [RCV001160673] Chr8:19965699 [GRCh38]
Chr8:19823210 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*455C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001160674] Chr8:19965765 [GRCh38]
Chr8:19823276 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1793G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162394] Chr8:19967103 [GRCh38]
Chr8:19824614 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001537868]|Hyperlipoproteinemia, type I [RCV001257912] Chr8:19955994 [GRCh38]
Chr8:19813505 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) single nucleotide variant Cardiovascular phenotype [RCV002402805]|Hyperlipoproteinemia, type I [RCV001835356]|not provided [RCV001587307] Chr8:19959292 [GRCh38]
Chr8:19816803 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000237.3(LPL):c.320A>G (p.Asn107Ser) single nucleotide variant not provided [RCV001256679] Chr8:19951839 [GRCh38]
Chr8:19809350 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1216A>T (p.Lys406Ter) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001332298]|Hyperlipoproteinemia, type I [RCV003992499] Chr8:19960977 [GRCh38]
Chr8:19818488 [GRCh37]
Chr8:8p21.3
pathogenic|uncertain significance
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV001332300]|Lipase deficiency, combined [RCV003987837]|not provided [RCV003236892] Chr8:19956056 [GRCh38]
Chr8:19813567 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.804C>G (p.His268Gln) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001262712] Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000237.3(LPL):c.1307G>A (p.Gly436Glu) single nucleotide variant Inborn genetic diseases [RCV001267601] Chr8:19961068 [GRCh38]
Chr8:19818579 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.213C>T (p.His71=) single nucleotide variant Cardiovascular phenotype [RCV002432173]|not provided [RCV001422958] Chr8:19948304 [GRCh38]
Chr8:19805815 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1019-6C>A single nucleotide variant not provided [RCV001422271] Chr8:19959254 [GRCh38]
Chr8:19816765 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1263G>A (p.Trp421Ter) single nucleotide variant not provided [RCV001382487] Chr8:19961024 [GRCh38]
Chr8:19818535 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.313G>A (p.Asp105Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279448]|not specified [RCV004769995] Chr8:19951832 [GRCh38]
Chr8:19809343 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.487C>T (p.His163Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV001332299] Chr8:19953367 [GRCh38]
Chr8:19810878 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1080G>A (p.Gln360=) single nucleotide variant Cardiovascular phenotype [RCV004037723]|not provided [RCV001392481] Chr8:19959321 [GRCh38]
Chr8:19816832 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.621C>T (p.Asp207=) single nucleotide variant Cardiovascular phenotype [RCV002368249]|LPL-related disorder [RCV003973234]|not provided [RCV001397642] Chr8:19954199 [GRCh38]
Chr8:19811710 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279449]|not specified [RCV004769996] Chr8:19960968 [GRCh38]
Chr8:19818479 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279450] Chr8:19960995 [GRCh38]
Chr8:19818506 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.84C>G (p.Ala28=) single nucleotide variant Cardiovascular phenotype [RCV004035487]|Hyperlipoproteinemia, type I [RCV001279447]|not provided [RCV001442245] Chr8:19939524 [GRCh38]
Chr8:19797035 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.105C>A (p.Ile35=) single nucleotide variant not provided [RCV001395631] Chr8:19948196 [GRCh38]
Chr8:19805707 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.891T>C (p.Phe297=) single nucleotide variant Cardiovascular phenotype [RCV002449175]|not provided [RCV001435549] Chr8:19955956 [GRCh38]
Chr8:19813467 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.744T>C (p.Ala248=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001836421]|not provided [RCV001494595] Chr8:19954322 [GRCh38]
Chr8:19811833 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-4C>A single nucleotide variant not provided [RCV001440961] Chr8:19948176 [GRCh38]
Chr8:19805687 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1137T>A (p.Thr379=) single nucleotide variant Cardiovascular phenotype [RCV002456814]|not provided [RCV001469853] Chr8:19959378 [GRCh38]
Chr8:19816889 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.291C>T (p.Ala97=) single nucleotide variant not provided [RCV001479322] Chr8:19951810 [GRCh38]
Chr8:19809321 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.192G>A (p.Val64=) single nucleotide variant not provided [RCV001441119] Chr8:19948283 [GRCh38]
Chr8:19805794 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1323-5C>T single nucleotide variant not provided [RCV001404783] Chr8:19962110 [GRCh38]
Chr8:19819621 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.295C>T (p.Leu99=) single nucleotide variant not provided [RCV001430620] Chr8:19951814 [GRCh38]
Chr8:19809325 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.489T>C (p.His163=) single nucleotide variant Cardiovascular phenotype [RCV003160835]|not provided [RCV001454095] Chr8:19953369 [GRCh38]
Chr8:19810880 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.585G>A (p.Pro195=) single nucleotide variant Cardiovascular phenotype [RCV002359103]|not provided [RCV001492629] Chr8:19954163 [GRCh38]
Chr8:19811674 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1062T>C (p.Ser354=) single nucleotide variant Cardiovascular phenotype [RCV002413945]|not provided [RCV001400220] Chr8:19959303 [GRCh38]
Chr8:19816814 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.684G>T (p.Gly228=) single nucleotide variant not provided [RCV001441841] Chr8:19954262 [GRCh38]
Chr8:19811773 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1293C>T (p.Ile431=) single nucleotide variant not provided [RCV001471732] Chr8:19961054 [GRCh38]
Chr8:19818565 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.966C>A (p.Ala322=) single nucleotide variant not provided [RCV001477167] Chr8:19956031 [GRCh38]
Chr8:19813542 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.9C>T (p.Ser3=) single nucleotide variant not provided [RCV001489097] Chr8:19939449 [GRCh38]
Chr8:19796960 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1374A>C (p.Ala458=) single nucleotide variant not provided [RCV001491628] Chr8:19962166 [GRCh38]
Chr8:19819677 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-6C>T single nucleotide variant not provided [RCV001466528] Chr8:19951763 [GRCh38]
Chr8:19809274 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.123T>C (p.Phe41=) single nucleotide variant not provided [RCV001469529] Chr8:19948214 [GRCh38]
Chr8:19805725 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1003C>T (p.Gln335Ter) single nucleotide variant not provided [RCV001390730] Chr8:19956068 [GRCh38]
Chr8:19813579 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1213T>C (p.Leu405=) single nucleotide variant Cardiovascular phenotype [RCV002359129]|not provided [RCV001503819] Chr8:19960974 [GRCh38]
Chr8:19818485 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.387A>G (p.Lys129=) single nucleotide variant not provided [RCV001484465] Chr8:19951906 [GRCh38]
Chr8:19809417 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.270T>C (p.Ser90=) single nucleotide variant not provided [RCV001440519] Chr8:19951789 [GRCh38]
Chr8:19809300 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+9G>A single nucleotide variant not provided [RCV001393856] Chr8:19951957 [GRCh38]
Chr8:19809468 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1322+483T>G single nucleotide variant not provided [RCV001513263] Chr8:19961566 [GRCh38]
Chr8:19961566..19961567 [GRCh38]
Chr8:19819077 [GRCh37]
Chr8:19819077..19819078 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1323-90T>G single nucleotide variant not provided [RCV001513267] Chr8:19962025 [GRCh38]
Chr8:19819536 [GRCh37]
Chr8:8p21.3
benign
NC_000008.11:g.19967385T>G single nucleotide variant not provided [RCV001539082] Chr8:19967385 [GRCh38]
Chr8:19824896 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1257C>T (p.Asp419=) single nucleotide variant Cardiovascular phenotype [RCV002420992]|not provided [RCV001439544] Chr8:19961018 [GRCh38]
Chr8:19818529 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.555T>C (p.Ala185=) single nucleotide variant Cardiovascular phenotype [RCV002350784]|not provided [RCV001409791] Chr8:19954133 [GRCh38]
Chr8:19811644 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.162C>T (p.Cys54=) single nucleotide variant Cardiovascular phenotype [RCV003170021]|not provided [RCV001405264] Chr8:19948253 [GRCh38]
Chr8:19805764 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.372C>T (p.Ser124=) single nucleotide variant Cardiovascular phenotype [RCV004629632]|not provided [RCV001409948] Chr8:19951891 [GRCh38]
Chr8:19809402 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.661A>T (p.Ile221Phe) single nucleotide variant not provided [RCV001377055] Chr8:19954239 [GRCh38]
Chr8:19811750 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.702G>T (p.Pro234=) single nucleotide variant not provided [RCV001437814] Chr8:19954280 [GRCh38]
Chr8:19811791 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.618A>G (p.Val206=) single nucleotide variant Cardiovascular phenotype [RCV002357328]|not provided [RCV001401151] Chr8:19954196 [GRCh38]
Chr8:19811707 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.15C>G (p.Ala5=) single nucleotide variant not provided [RCV001447672] Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3
likely benign
NC_000008.10:g.(?_19796711)_(19824563_?)del deletion not provided [RCV001390915] Chr8:19796711..19824563 [GRCh37]
Chr8:8p21.3
pathogenic
NC_000008.10:g.(?_19810811)_(19811874_?)del deletion not provided [RCV001390916] Chr8:19810811..19811874 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.429+8T>A single nucleotide variant not provided [RCV001404015] Chr8:19951956 [GRCh38]
Chr8:19809467 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.783C>T (p.Asp261=) single nucleotide variant Cardiovascular phenotype [RCV003160805]|not provided [RCV001447644] Chr8:19955848 [GRCh38]
Chr8:19813359 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.549T>C (p.Asp183=) single nucleotide variant not provided [RCV001416359] Chr8:19954127 [GRCh38]
Chr8:19811638 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.60C>T (p.Ala20=) single nucleotide variant Cardiovascular phenotype [RCV002357332]|not provided [RCV001402671] Chr8:19939500 [GRCh38]
Chr8:19797011 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.417C>T (p.Ile139=) single nucleotide variant Cardiovascular phenotype [RCV003160721]|not provided [RCV001429723] Chr8:19951936 [GRCh38]
Chr8:19809447 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1113C>T (p.Ala371=) single nucleotide variant Cardiovascular phenotype [RCV002439057]|not provided [RCV001447987] Chr8:19959354 [GRCh38]
Chr8:19816865 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.474C>G (p.Tyr158Ter) single nucleotide variant not provided [RCV001380878] Chr8:19953354 [GRCh38]
Chr8:19810865 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.375G>C (p.Ala125=) single nucleotide variant not provided [RCV001440640] Chr8:19951894 [GRCh38]
Chr8:19809405 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1172_1175del (p.Ser390_Phe391insTer) microsatellite not provided [RCV001389143] Chr8:19960929..19960932 [GRCh38]
Chr8:19818440..19818443 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1191A>G (p.Val397=) single nucleotide variant not provided [RCV001406607] Chr8:19960952 [GRCh38]
Chr8:19818463 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.807G>A (p.Glu269=) single nucleotide variant Cardiovascular phenotype [RCV002421078]|not provided [RCV001472530] Chr8:19955872 [GRCh38]
Chr8:19813383 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1275C>A (p.Gly425=) single nucleotide variant not provided [RCV001498750] Chr8:19961036 [GRCh38]
Chr8:19818547 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.372C>G (p.Ser124=) single nucleotide variant not provided [RCV001457639] Chr8:19951891 [GRCh38]
Chr8:19809402 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+9T>C single nucleotide variant not provided [RCV001502571] Chr8:19962228 [GRCh38]
Chr8:19819739 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.72G>C (p.Gly24=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001832627]|not provided [RCV001481958] Chr8:19939512 [GRCh38]
Chr8:19797023 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.286G>C (p.Val96Leu) single nucleotide variant not provided [RCV001699858] Chr8:19951805 [GRCh38]
Chr8:19809316 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.340C>T (p.Leu114=) single nucleotide variant not provided [RCV001476591] Chr8:19951859 [GRCh38]
Chr8:19809370 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+82C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001832828]|not provided [RCV001609219] Chr8:19956165 [GRCh38]
Chr8:19813676 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.462T>C (p.His154=) single nucleotide variant Cardiovascular phenotype [RCV002342031]|not provided [RCV001462604] Chr8:19953342 [GRCh38]
Chr8:19810853 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+108G>A single nucleotide variant not provided [RCV001716265] Chr8:19956191 [GRCh38]
Chr8:19813702 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.249+78A>G single nucleotide variant not provided [RCV001654544] Chr8:19948418 [GRCh38]
Chr8:19805929 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.264T>C (p.Tyr88=) single nucleotide variant Cardiovascular phenotype [RCV004038548]|not provided [RCV001455717] Chr8:19951783 [GRCh38]
Chr8:19809294 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.321T>C (p.Asn107=) single nucleotide variant not provided [RCV001459862] Chr8:19951840 [GRCh38]
Chr8:19809351 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+80A>G single nucleotide variant not provided [RCV001616074] Chr8:19954433 [GRCh38]
Chr8:19811944 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.105C>T (p.Ile35=) single nucleotide variant Cardiovascular phenotype [RCV002405174]|not provided [RCV001497550] Chr8:19948196 [GRCh38]
Chr8:19805707 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.430-30A>C single nucleotide variant not provided [RCV001708372] Chr8:19953280 [GRCh38]
Chr8:19810791 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1098G>A (p.Leu366=) single nucleotide variant Cardiovascular phenotype [RCV004641656]|not provided [RCV001477990] Chr8:19959339 [GRCh38]
Chr8:19816850 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+34A>G single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002488323]|Hyperlipoproteinemia, type I [RCV001832687]|LPL-related disorder [RCV003966081]|not provided [RCV001513258] Chr8:19956117 [GRCh38]
Chr8:19813628 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1428-127T>C single nucleotide variant not provided [RCV001682583] Chr8:19965183 [GRCh38]
Chr8:19822694 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1035A>T (p.Val345=) single nucleotide variant not provided [RCV001460988] Chr8:19959276 [GRCh38]
Chr8:19816787 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002246352]|Hyperlipoproteinemia, type I [RCV001732177]|not provided [RCV001377679] Chr8:19954125 [GRCh38]
Chr8:19811636 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) single nucleotide variant Cardiovascular phenotype [RCV002420853]|Hyperlipoproteinemia, type I [RCV001831346]|not provided [RCV001377680] Chr8:19955870 [GRCh38]
Chr8:19813381 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.250-8A>G single nucleotide variant not provided [RCV001419018] Chr8:19951761 [GRCh38]
Chr8:19809272 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1038G>A (p.Lys346=) single nucleotide variant not provided [RCV001486878] Chr8:19959279 [GRCh38]
Chr8:19816790 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+8T>C single nucleotide variant not provided [RCV001473076] Chr8:19954361 [GRCh38]
Chr8:19811872 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.879C>A (p.Ser293=) single nucleotide variant not provided [RCV001499946] Chr8:19955944 [GRCh38]
Chr8:19813455 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-7T>G single nucleotide variant not provided [RCV001405772] Chr8:19948173 [GRCh38]
Chr8:19805684 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.466T>C (p.Leu156=) single nucleotide variant not provided [RCV001458391] Chr8:19953346 [GRCh38]
Chr8:19810857 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.776-7T>C single nucleotide variant not provided [RCV001487807] Chr8:19955834 [GRCh38]
Chr8:19813345 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.174C>T (p.Pro58=) single nucleotide variant not provided [RCV001486754] Chr8:19948265 [GRCh38]
Chr8:19805776 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.474C>T (p.Tyr158=) single nucleotide variant Cardiovascular phenotype [RCV002329532]|not provided [RCV001460517] Chr8:19953354 [GRCh38]
Chr8:19810865 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.765_766del (p.Gly256fs) microsatellite Hyperlipoproteinemia, type I [RCV001526865]|not provided [RCV002538389] Chr8:19954337..19954338 [GRCh38]
Chr8:19811848..19811849 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.430-10T>C single nucleotide variant not provided [RCV001397818] Chr8:19953300 [GRCh38]
Chr8:19810811 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.88+10G>A single nucleotide variant not provided [RCV001466038] Chr8:19939538 [GRCh38]
Chr8:19797049 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+7A>G single nucleotide variant not provided [RCV001423508] Chr8:19954360 [GRCh38]
Chr8:19811871 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+10C>T single nucleotide variant not provided [RCV001400014] Chr8:19962229 [GRCh38]
Chr8:19819740 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1377T>C (p.Pro459=) single nucleotide variant not provided [RCV001427970] Chr8:19962169 [GRCh38]
Chr8:19819680 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.541G>C (p.Gly181Arg) single nucleotide variant not provided [RCV001385519] Chr8:19953421 [GRCh38]
Chr8:19810932 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.525A>G (p.Lys175=) single nucleotide variant Cardiovascular phenotype [RCV002341920]|not provided [RCV001425786]|not specified [RCV004699375] Chr8:19953405 [GRCh38]
Chr8:19810916 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1092T>A (p.Ile364=) single nucleotide variant not provided [RCV001407156] Chr8:19959333 [GRCh38]
Chr8:19816844 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.15C>A (p.Ala5=) single nucleotide variant not provided [RCV001416679] Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+7T>G single nucleotide variant not provided [RCV001424145] Chr8:19956090 [GRCh38]
Chr8:19813601 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+7A>C single nucleotide variant not provided [RCV001450341] Chr8:19962226 [GRCh38]
Chr8:19819737 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.777T>C (p.Asp259=) single nucleotide variant not provided [RCV001459727] Chr8:19955842 [GRCh38]
Chr8:19813353 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1323-298T>C single nucleotide variant not provided [RCV001528041] Chr8:19961817 [GRCh38]
Chr8:19819328 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.546C>G (p.Leu182=) single nucleotide variant not provided [RCV001482551] Chr8:19954124 [GRCh38]
Chr8:19811635 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.685C>G (p.His229Asp) single nucleotide variant not specified [RCV002247957] Chr8:19954263 [GRCh38]
Chr8:19811774 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1306G>C (p.Gly436Arg) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002249096] Chr8:19961067 [GRCh38]
Chr8:19818578 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.691G>A (p.Asp231Asn) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002250097] Chr8:19954269 [GRCh38]
Chr8:19811780 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.862G>C (p.Ala288Pro) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002250098]|not provided [RCV003565507] Chr8:19955927 [GRCh38]
Chr8:19813438 [GRCh37]
Chr8:8p21.3
pathogenic|uncertain significance
NM_000237.3(LPL):c.984G>T (p.Met328Ile) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002250099]|not provided [RCV003560886] Chr8:19956049 [GRCh38]
Chr8:19813560 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.622G>A (p.Val208Ile) single nucleotide variant not provided [RCV003108273] Chr8:19954200 [GRCh38]
Chr8:19811711 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.925del (p.Arg309fs) deletion Hyperlipoproteinemia, type I [RCV003127194] Chr8:19955989 [GRCh38]
Chr8:19813500 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.248C>T (p.Thr83Met) single nucleotide variant Cardiovascular phenotype [RCV003164351]|not specified [RCV002247951] Chr8:19948339 [GRCh38]
Chr8:19805850 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.572A>T (p.Tyr191Phe) single nucleotide variant not specified [RCV002247954] Chr8:19954150 [GRCh38]
Chr8:19811661 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.329TGG[1] (p.Val111del) microsatellite not provided [RCV001767339] Chr8:19951847..19951849 [GRCh38]
Chr8:19809358..19809360 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.767_768insTAAATATT (p.Leu257fs) insertion not provided [RCV001783611] Chr8:19954345..19954346 [GRCh38]
Chr8:19811856..19811857 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.885A>C (p.Glu295Asp) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002477986]|not provided [RCV001771451] Chr8:19955950 [GRCh38]
Chr8:19813461 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.733del (p.Ile245fs) deletion not provided [RCV001782394] Chr8:19954311 [GRCh38]
Chr8:19811822 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.541+1G>A single nucleotide variant not provided [RCV001782395] Chr8:19953422 [GRCh38]
Chr8:19810933 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.958G>T (p.Val320Phe) single nucleotide variant Cardiovascular phenotype [RCV002386513]|not provided [RCV001754064] Chr8:19956023 [GRCh38]
Chr8:19813534 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1136C>G (p.Thr379Ser) single nucleotide variant not provided [RCV001753979] Chr8:19959377 [GRCh38]
Chr8:19816888 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1315C>T (p.Gln439Ter) single nucleotide variant not provided [RCV001782396] Chr8:19961076 [GRCh38]
Chr8:19818587 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1394G>A (p.Cys465Tyr) single nucleotide variant not specified [RCV001732816] Chr8:19962186 [GRCh38]
Chr8:19819697 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.686A>G (p.His229Arg) single nucleotide variant not provided [RCV001757810] Chr8:19954264 [GRCh38]
Chr8:19811775 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.370T>C (p.Ser124Pro) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001808144]|not provided [RCV001869582] Chr8:19951889 [GRCh38]
Chr8:19809400 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1139+7A>G single nucleotide variant not provided [RCV001896321] Chr8:19959387 [GRCh38]
Chr8:19816898 [GRCh37]
Chr8:8p21.3
likely pathogenic|uncertain significance
NM_000237.3(LPL):c.1123A>G (p.Asn375Asp) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002478075]|not specified [RCV001844472] Chr8:19959364 [GRCh38]
Chr8:19816875 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.634T>C (p.Phe212Leu) single nucleotide variant not provided [RCV001926719]|not specified [RCV004699560] Chr8:19954212 [GRCh38]
Chr8:19811723 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1322+1G>C single nucleotide variant not provided [RCV001926403] Chr8:19961084 [GRCh38]
Chr8:19818595 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.138del (p.Glu47fs) deletion not provided [RCV001893803] Chr8:19948229 [GRCh38]
Chr8:19805740 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.590G>T (p.Arg197Leu) single nucleotide variant not provided [RCV002007537] Chr8:19954168 [GRCh38]
Chr8:19811679 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.10_19del (p.Lys4fs) deletion not provided [RCV001970159] Chr8:19939448..19939457 [GRCh38]
Chr8:19796959..19796968 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) single nucleotide variant Cardiovascular phenotype [RCV003299025]|Hyperlipidemia, familial combined, LPL related [RCV002246536]|Hyperlipoproteinemia, type I [RCV001823501] Chr8:19948333 [GRCh38]
Chr8:19805844 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.1103G>A (p.Gly368Asp) single nucleotide variant not provided [RCV002005303] Chr8:19959344 [GRCh38]
Chr8:19816855 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.589C>T (p.Arg197Cys) single nucleotide variant Cardiovascular phenotype [RCV002352679]|not provided [RCV001966950] Chr8:19954167 [GRCh38]
Chr8:19811678 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.688del (p.Val230fs) deletion Hyperlipidemia, familial combined, LPL related [RCV002490029]|not provided [RCV001944569] Chr8:19954266 [GRCh38]
Chr8:19811777 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.1201G>C (p.Glu401Gln) single nucleotide variant Cardiovascular phenotype [RCV003167382]|not provided [RCV001962611] Chr8:19960962 [GRCh38]
Chr8:19818473 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1092T>C (p.Ile364=) single nucleotide variant not provided [RCV001963115] Chr8:19959333 [GRCh38]
Chr8:19816844 [GRCh37]
Chr8:8p21.3
likely benign
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3
uncertain significance
NC_000008.10:g.(?_19263291)_(20112692_?)dup duplication not provided [RCV001885785] Chr8:19263291..20112692 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.680T>G (p.Val227Gly) single nucleotide variant not provided [RCV001906639] Chr8:19954258 [GRCh38]
Chr8:19811769 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.572_588del (p.Tyr191fs) deletion not provided [RCV001933736] Chr8:19954146..19954162 [GRCh38]
Chr8:19811657..19811673 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.932del (p.Asn311fs) deletion not provided [RCV001931017] Chr8:19955996 [GRCh38]
Chr8:19813507 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.811del (p.Ser271fs) deletion not provided [RCV001878743] Chr8:19955876 [GRCh38]
Chr8:19813387 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.808C>G (p.Arg270Gly) single nucleotide variant not provided [RCV002015579] Chr8:19955873 [GRCh38]
Chr8:19813384 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.46_47del (p.Gln16fs) deletion not provided [RCV001971967] Chr8:19939486..19939487 [GRCh38]
Chr8:19796997..19796998 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.383C>A (p.Thr128Asn) single nucleotide variant not provided [RCV002027644] Chr8:19951902 [GRCh38]
Chr8:19809413 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.566_567del (p.Asn188_Phe189insTer) deletion Cardiovascular phenotype [RCV002343994]|not provided [RCV001939710] Chr8:19954143..19954144 [GRCh38]
Chr8:19811654..19811655 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.919A>T (p.Lys307Ter) single nucleotide variant not provided [RCV001956172] Chr8:19955984 [GRCh38]
Chr8:19813495 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.89-1G>C single nucleotide variant not provided [RCV001980924] Chr8:19948179 [GRCh38]
Chr8:19805690 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.89-1G>A single nucleotide variant not provided [RCV001989223] Chr8:19948179 [GRCh38]
Chr8:19805690 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.541G>A (p.Gly181Ser) single nucleotide variant not provided [RCV001972355] Chr8:19953421 [GRCh38]
Chr8:19810932 [GRCh37]
Chr8:8p21.3
pathogenic
NC_000008.10:g.(?_19796711)_(19797049_?)del deletion not provided [RCV001959152] Chr8:19796711..19797049 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1019-3C>A single nucleotide variant Cardiovascular phenotype [RCV002352653]|Hyperlipoproteinemia, type I [RCV003994365]|not provided [RCV001972752] Chr8:19959257 [GRCh38]
Chr8:19816768 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.1259G>A (p.Trp420Ter) single nucleotide variant not provided [RCV001997215] Chr8:19961020 [GRCh38]
Chr8:19818531 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.763_766del (p.Arg255fs) microsatellite not provided [RCV001994463] Chr8:19954337..19954340 [GRCh38]
Chr8:19811848..19811851 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.355del (p.Glu119fs) deletion not provided [RCV001958590] Chr8:19951873 [GRCh38]
Chr8:19809384 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.985T>C (p.Tyr329His) single nucleotide variant not provided [RCV002224176] Chr8:19956050 [GRCh38]
Chr8:19813561 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1215G>A (p.Leu405=) single nucleotide variant not provided [RCV002210419] Chr8:19960976 [GRCh38]
Chr8:19818487 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.888C>T (p.Ala296=) single nucleotide variant not provided [RCV002092110] Chr8:19955953 [GRCh38]
Chr8:19813464 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1311G>A (p.Glu437=) single nucleotide variant not provided [RCV002186416] Chr8:19961072 [GRCh38]
Chr8:19818583 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.252A>T (p.Val84=) single nucleotide variant not provided [RCV002186231] Chr8:19951771 [GRCh38]
Chr8:19809282 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.495T>C (p.Ala165=) single nucleotide variant Cardiovascular phenotype [RCV004045065]|not provided [RCV002189400] Chr8:19953375 [GRCh38]
Chr8:19810886 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV003988878]|not provided [RCV002223447] Chr8:19961011 [GRCh38]
Chr8:19818522 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.88+9T>C single nucleotide variant not provided [RCV002129302] Chr8:19939537 [GRCh38]
Chr8:19797048 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1389G>C (p.Val463=) single nucleotide variant Cardiovascular phenotype [RCV002391212]|not provided [RCV002087896] Chr8:19962181 [GRCh38]
Chr8:19819692 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.393G>A (p.Val131=) single nucleotide variant not provided [RCV002147011] Chr8:19951912 [GRCh38]
Chr8:19809423 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+19C>A single nucleotide variant not provided [RCV002166944] Chr8:19954372 [GRCh38]
Chr8:19811883 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1374A>T (p.Ala458=) single nucleotide variant not provided [RCV002074730] Chr8:19962166 [GRCh38]
Chr8:19819677 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.108C>T (p.Asp36=) single nucleotide variant not provided [RCV002169028] Chr8:19948199 [GRCh38]
Chr8:19805710 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.267G>A (p.Glu89=) single nucleotide variant not provided [RCV002190667] Chr8:19951786 [GRCh38]
Chr8:19809297 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1322+15T>A single nucleotide variant not provided [RCV002104633] Chr8:19961098 [GRCh38]
Chr8:19818609 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.399G>A (p.Gln133=) single nucleotide variant not provided [RCV002205334] Chr8:19951918 [GRCh38]
Chr8:19809429 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.843T>C (p.Asn281=) single nucleotide variant Cardiovascular phenotype [RCV002409513]|not provided [RCV002107789]|not specified [RCV003331299] Chr8:19955908 [GRCh38]
Chr8:19813419 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1335T>C (p.Cys445=) single nucleotide variant not provided [RCV002192154] Chr8:19962127 [GRCh38]
Chr8:19819638 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.587G>C (p.Ser196Thr) single nucleotide variant not specified [RCV002247956] Chr8:19954165 [GRCh38]
Chr8:19811676 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1380G>A (p.Ala460=) single nucleotide variant Cardiovascular phenotype [RCV002382325]|not provided [RCV002085352] Chr8:19962172 [GRCh38]
Chr8:19819683 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.867C>T (p.Tyr289=) single nucleotide variant not provided [RCV002210588] Chr8:19955932 [GRCh38]
Chr8:19813443 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.795G>A (p.Lys265=) single nucleotide variant Cardiovascular phenotype [RCV004045707]|not provided [RCV002075487] Chr8:19955860 [GRCh38]
Chr8:19813371 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.318C>T (p.Ser106=) single nucleotide variant Cardiovascular phenotype [RCV002324521]|not provided [RCV002092807] Chr8:19951837 [GRCh38]
Chr8:19809348 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-19T>A single nucleotide variant not provided [RCV002079738] Chr8:19965291 [GRCh38]
Chr8:19822802 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+19C>T single nucleotide variant not provided [RCV002211520] Chr8:19954372 [GRCh38]
Chr8:19811883 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.789A>C (p.Leu263=) single nucleotide variant not provided [RCV002171877] Chr8:19955854 [GRCh38]
Chr8:19813365 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.537T>A (p.Ile179=) single nucleotide variant not provided [RCV002133107] Chr8:19953417 [GRCh38]
Chr8:19810928 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.240T>C (p.His80=) single nucleotide variant not provided [RCV002197000] Chr8:19948331 [GRCh38]
Chr8:19805842 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1245T>C (p.Phe415=) single nucleotide variant not provided [RCV002117341] Chr8:19961006 [GRCh38]
Chr8:19818517 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.33G>T (p.Leu11=) single nucleotide variant not provided [RCV002195395] Chr8:19939473 [GRCh38]
Chr8:19796984 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.444C>T (p.Tyr148=) single nucleotide variant not provided [RCV002077527] Chr8:19953324 [GRCh38]
Chr8:19810835 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.225C>G (p.Thr75=) single nucleotide variant not provided [RCV002188926] Chr8:19948316 [GRCh38]
Chr8:19805827 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.606T>C (p.Asp202=) single nucleotide variant not provided [RCV002197370] Chr8:19954184 [GRCh38]
Chr8:19811695 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.414T>C (p.Phe138=) single nucleotide variant not provided [RCV002114322] Chr8:19951933 [GRCh38]
Chr8:19809444 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1422A>T (p.Ser474=) single nucleotide variant not provided [RCV002167188] Chr8:19962214 [GRCh38]
Chr8:19819725 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.741A>G (p.Glu247=) single nucleotide variant not provided [RCV002150038] Chr8:19954319 [GRCh38]
Chr8:19811830 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.750C>T (p.Arg250=) single nucleotide variant Cardiovascular phenotype [RCV002391298]|not provided [RCV002106672] Chr8:19954328 [GRCh38]
Chr8:19811839 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+10_775+11dup duplication not provided [RCV002213231] Chr8:19954361..19954362 [GRCh38]
Chr8:19811872..19811873 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+7A>T single nucleotide variant not provided [RCV002194145] Chr8:19962226 [GRCh38]
Chr8:19819737 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1299A>G (p.Val433=) single nucleotide variant not provided [RCV002096797] Chr8:19961060 [GRCh38]
Chr8:19818571 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.542-4T>C single nucleotide variant not provided [RCV002153387] Chr8:19954116 [GRCh38]
Chr8:19811627 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.257G>C (p.Gly86Ala) single nucleotide variant not specified [RCV002247952] Chr8:19951776 [GRCh38]
Chr8:19809287 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.886G>A (p.Ala296Thr) single nucleotide variant not specified [RCV002247959] Chr8:19955951 [GRCh38]
Chr8:19813462 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1314T>G (p.Thr438=) single nucleotide variant not provided [RCV002142034] Chr8:19961075 [GRCh38]
Chr8:19818586 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.633A>G (p.Thr211=) single nucleotide variant Cardiovascular phenotype [RCV002352839]|not provided [RCV002102946] Chr8:19954211 [GRCh38]
Chr8:19811722 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-10T>C single nucleotide variant not provided [RCV002220266] Chr8:19948170 [GRCh38]
Chr8:19805681 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1155A>T (p.Thr385=) single nucleotide variant not provided [RCV002159890] Chr8:19960916 [GRCh38]
Chr8:19818427 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.190G>T (p.Val64Leu) single nucleotide variant not specified [RCV002247950] Chr8:19948281 [GRCh38]
Chr8:19805792 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.373G>A (p.Ala125Thr) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002481052]|not specified [RCV002247953] Chr8:19951892 [GRCh38]
Chr8:19809403 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.877T>C (p.Ser293Pro) single nucleotide variant not specified [RCV002247958] Chr8:19955942 [GRCh38]
Chr8:19813453 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.645G>A (p.Gly215=) single nucleotide variant not provided [RCV002158243] Chr8:19954223 [GRCh38]
Chr8:19811734 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.63C>T (p.Ser21=) single nucleotide variant not provided [RCV002163783] Chr8:19939503 [GRCh38]
Chr8:19797014 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.948G>A (p.Glu316=) single nucleotide variant Cardiovascular phenotype [RCV002373012]|not provided [RCV002163823] Chr8:19956013 [GRCh38]
Chr8:19813524 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1242C>T (p.Tyr414=) single nucleotide variant not provided [RCV002140467] Chr8:19961003 [GRCh38]
Chr8:19818514 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.430-5C>T single nucleotide variant not provided [RCV002137399] Chr8:19953305 [GRCh38]
Chr8:19810816 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.838T>C (p.Leu280=) single nucleotide variant not provided [RCV002158174] Chr8:19955903 [GRCh38]
Chr8:19813414 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1278C>T (p.Phe426=) single nucleotide variant Cardiovascular phenotype [RCV002443121]|LPL-related disorder [RCV003958541]|not provided [RCV002202140] Chr8:19961039 [GRCh38]
Chr8:19818550 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1383A>G (p.Val461=) single nucleotide variant not provided [RCV002200732] Chr8:19962175 [GRCh38]
Chr8:19819686 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.45C>G (p.Leu15=) single nucleotide variant not provided [RCV002136534] Chr8:19939485 [GRCh38]
Chr8:19796996 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1416G>A (p.Lys472=) single nucleotide variant not provided [RCV002123774] Chr8:19962208 [GRCh38]
Chr8:19819719 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.831C>T (p.Asp277=) single nucleotide variant not provided [RCV002178555] Chr8:19955896 [GRCh38]
Chr8:19813407 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.776-4C>T single nucleotide variant not provided [RCV002157455] Chr8:19955837 [GRCh38]
Chr8:19813348 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1068C>T (p.Thr356=) single nucleotide variant not provided [RCV002216519] Chr8:19959309 [GRCh38]
Chr8:19816820 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.582C>T (p.Ala194=) single nucleotide variant not provided [RCV002159626] Chr8:19954160 [GRCh38]
Chr8:19811671 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+19C>T single nucleotide variant not provided [RCV002119788] Chr8:19959399 [GRCh38]
Chr8:19816910 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+7A>G single nucleotide variant not provided [RCV002177707] Chr8:19962226 [GRCh38]
Chr8:19819737 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1140-13C>T single nucleotide variant not provided [RCV002180043] Chr8:19960888 [GRCh38]
Chr8:19818399 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+7T>C single nucleotide variant not provided [RCV002217892] Chr8:19956090 [GRCh38]
Chr8:19813601 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775G>A (p.Asp259Asn) single nucleotide variant not provided [RCV003110558] Chr8:19954353 [GRCh38]
Chr8:19811864 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.309A>G (p.Glu103=) single nucleotide variant Cardiovascular phenotype [RCV003294617]|not provided [RCV003115151] Chr8:19951828 [GRCh38]
Chr8:19809339 [GRCh37]
Chr8:8p21.3
likely benign
NC_000008.10:g.(?_19818402)_(19824563_?)del deletion not provided [RCV003122215] Chr8:19818402..19824563 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1342G>A (p.Glu448Lys) single nucleotide variant Cardiovascular phenotype [RCV002382482]|not specified [RCV002247960] Chr8:19962134 [GRCh38]
Chr8:19819645 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.88+1G>T single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002250095] Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.925C>T (p.Arg309Cys) single nucleotide variant not specified [RCV003230895] Chr8:19955990 [GRCh38]
Chr8:19813501 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1019-2A>T single nucleotide variant Cardiovascular phenotype [RCV002352961]|Hyperlipidemia, familial combined, LPL related [RCV004690276]|Hyperlipoproteinemia, type I [RCV002260532] Chr8:19959258 [GRCh38]
Chr8:19816769 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.375G>A (p.Ala125=) single nucleotide variant Cardiovascular phenotype [RCV002349359] Chr8:19951894 [GRCh38]
Chr8:19809405 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.33G>A (p.Leu11=) single nucleotide variant Cardiovascular phenotype [RCV002452051] Chr8:19939473 [GRCh38]
Chr8:19796984 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.285T>G (p.Leu95=) single nucleotide variant Cardiovascular phenotype [RCV002435481]|not provided [RCV003574970] Chr8:19951804 [GRCh38]
Chr8:19809315 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
NM_000237.3(LPL):c.1428-80T>A single nucleotide variant not provided [RCV002286043] Chr8:19965230 [GRCh38]
Chr8:19822741 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1426T>C (p.Ter476Arg) single nucleotide variant not provided [RCV003234374] Chr8:19962218 [GRCh38]
Chr8:19819729 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
NM_000237.3(LPL):c.-3G>T single nucleotide variant not provided [RCV002293800] Chr8:19939438 [GRCh38]
Chr8:19796949 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.775+138A>G single nucleotide variant not provided [RCV002285848] Chr8:19954491 [GRCh38]
Chr8:19812002 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1322+2T>G single nucleotide variant Cardiovascular phenotype [RCV002385709] Chr8:19961085 [GRCh38]
Chr8:19818596 [GRCh37]
Chr8:8p21.3
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_000237.3(LPL):c.79G>T (p.Ala27Ser) single nucleotide variant Cardiovascular phenotype [RCV002419154] Chr8:19939519 [GRCh38]
Chr8:19797030 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.300C>T (p.Tyr100=) single nucleotide variant Cardiovascular phenotype [RCV002435760]|not provided [RCV003730239] Chr8:19951819 [GRCh38]
Chr8:19809330 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.8G>A (p.Ser3Asn) single nucleotide variant Cardiovascular phenotype [RCV002373078]|not specified [RCV002282815] Chr8:19939448 [GRCh38]
Chr8:19796959 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.944A>G (p.Tyr315Cys) single nucleotide variant Cardiovascular phenotype [RCV004314746] Chr8:19956009 [GRCh38]
Chr8:19813520 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:19734916-20137818)x3 copy number gain not provided [RCV002474986] Chr8:19734916..20137818 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.56C>A (p.Thr19Asn) single nucleotide variant Cardiovascular phenotype [RCV002347548] Chr8:19939496 [GRCh38]
Chr8:19797007 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.867C>A (p.Tyr289Ter) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV002466920] Chr8:19955932 [GRCh38]
Chr8:19813443 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.465C>T (p.Leu155=) single nucleotide variant Cardiovascular phenotype [RCV002335100] Chr8:19953345 [GRCh38]
Chr8:19810856 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1158T>G (p.Asn386Lys) single nucleotide variant Cardiovascular phenotype [RCV002357450]|not provided [RCV004763372] Chr8:19960919 [GRCh38]
Chr8:19818430 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1234G>C (p.Asp412His) single nucleotide variant Cardiovascular phenotype [RCV002364695]|not provided [RCV004774672] Chr8:19960995 [GRCh38]
Chr8:19818506 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.789A>G (p.Leu263=) single nucleotide variant Cardiovascular phenotype [RCV002416605] Chr8:19955854 [GRCh38]
Chr8:19813365 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.749G>A (p.Arg250His) single nucleotide variant Cardiovascular phenotype [RCV002391601] Chr8:19954327 [GRCh38]
Chr8:19811838 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1033G>A (p.Val345Ile) single nucleotide variant Cardiovascular phenotype [RCV002389396]|not specified [RCV004587351] Chr8:19959274 [GRCh38]
Chr8:19816785 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.342G>A (p.Leu114=) single nucleotide variant Cardiovascular phenotype [RCV002457022]|not provided [RCV003099478] Chr8:19951861 [GRCh38]
Chr8:19809372 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.939G>A (p.Leu313=) single nucleotide variant Cardiovascular phenotype [RCV002373880] Chr8:19956004 [GRCh38]
Chr8:19813515 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1275C>G (p.Gly425=) single nucleotide variant Cardiovascular phenotype [RCV002371419] Chr8:19961036 [GRCh38]
Chr8:19818547 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.468G>A (p.Leu156=) single nucleotide variant Cardiovascular phenotype [RCV002330567]|not provided [RCV003738207] Chr8:19953348 [GRCh38]
Chr8:19810859 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.58_71delinsCCTC (p.Ala20fs) indel Cardiovascular phenotype [RCV002359886] Chr8:19939498..19939511 [GRCh38]
Chr8:19797009..19797022 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.949A>T (p.Ile317Phe) single nucleotide variant Cardiovascular phenotype [RCV002374097] Chr8:19956014 [GRCh38]
Chr8:19813525 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.898_1019-1238dup duplication Cardiovascular phenotype [RCV002376260] Chr8:19955962..19955963 [GRCh38]
Chr8:19813473..19813474 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.834T>A (p.Ser278=) single nucleotide variant Cardiovascular phenotype [RCV002434712] Chr8:19955899 [GRCh38]
Chr8:19813410 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.729T>C (p.Cys243=) single nucleotide variant Cardiovascular phenotype [RCV002382745]|not provided [RCV003718550] Chr8:19954307 [GRCh38]
Chr8:19811818 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.37G>T (p.Val13Leu) single nucleotide variant Cardiovascular phenotype [RCV002355177]|not provided [RCV003094369] Chr8:19939477 [GRCh38]
Chr8:19796988 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1044T>C (p.His348=) single nucleotide variant Cardiovascular phenotype [RCV002403417]|not provided [RCV003096924] Chr8:19959285 [GRCh38]
Chr8:19816796 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.153G>A (p.Glu51=) single nucleotide variant Cardiovascular phenotype [RCV002403143]|not provided [RCV003095306] Chr8:19948244 [GRCh38]
Chr8:19805755 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.592C>T (p.Leu198Phe) single nucleotide variant Cardiovascular phenotype [RCV002355855] Chr8:19954170 [GRCh38]
Chr8:19811681 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.128T>A (p.Leu43Gln) single nucleotide variant Cardiovascular phenotype [RCV002383287] Chr8:19948219 [GRCh38]
Chr8:19805730 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.598C>T (p.Pro200Ser) single nucleotide variant Cardiovascular phenotype [RCV002357873] Chr8:19954176 [GRCh38]
Chr8:19811687 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.911G>C (p.Ser304Thr) single nucleotide variant Cardiovascular phenotype [RCV002378705] Chr8:19955976 [GRCh38]
Chr8:19813487 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1375C>T (p.Pro459Ser) single nucleotide variant Cardiovascular phenotype [RCV002383794] Chr8:19962167 [GRCh38]
Chr8:19819678 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.914G>C (p.Cys305Ser) single nucleotide variant Cardiovascular phenotype [RCV002378798]|Hyperlipidemia, familial combined, LPL related [RCV003322633] Chr8:19955979 [GRCh38]
Chr8:19813490 [GRCh37]
Chr8:8p21.3
likely pathogenic|uncertain significance
NM_000237.3(LPL):c.1049C>T (p.Ser350Phe) single nucleotide variant Cardiovascular phenotype [RCV002394831] Chr8:19959290 [GRCh38]
Chr8:19816801 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.916A>G (p.Arg306Gly) single nucleotide variant Cardiovascular phenotype [RCV002378852] Chr8:19955981 [GRCh38]
Chr8:19813492 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.21C>A (p.Leu7=) single nucleotide variant Cardiovascular phenotype [RCV002425688]|not provided [RCV003098706] Chr8:19939461 [GRCh38]
Chr8:19796972 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1273G>A (p.Gly425Ser) single nucleotide variant Cardiovascular phenotype [RCV002378888]|not provided [RCV003883817] Chr8:19961034 [GRCh38]
Chr8:19818545 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1371G>C (p.Lys457Asn) single nucleotide variant Cardiovascular phenotype [RCV002383715] Chr8:19962163 [GRCh38]
Chr8:19819674 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1372G>T (p.Ala458Ser) single nucleotide variant Cardiovascular phenotype [RCV002383740] Chr8:19962164 [GRCh38]
Chr8:19819675 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.386A>C (p.Lys129Thr) single nucleotide variant Cardiovascular phenotype [RCV002355586]|Hyperlipidemia, familial combined, LPL related [RCV003228070] Chr8:19951905 [GRCh38]
Chr8:19809416 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.89A>G (p.Gln30Arg) single nucleotide variant Cardiovascular phenotype [RCV002376318] Chr8:19948180 [GRCh38]
Chr8:19805691 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1365A>T (p.Lys455Asn) single nucleotide variant Cardiovascular phenotype [RCV002383572] Chr8:19962157 [GRCh38]
Chr8:19819668 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1005G>A (p.Gln335=) single nucleotide variant Cardiovascular phenotype [RCV002408207] Chr8:19956070 [GRCh38]
Chr8:19813581 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.31C>T (p.Leu11=) single nucleotide variant Cardiovascular phenotype [RCV002322959]|not provided [RCV003099285] Chr8:19939471 [GRCh38]
Chr8:19796982 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.192G>C (p.Val64=) single nucleotide variant Cardiovascular phenotype [RCV002410889]|not provided [RCV003097362] Chr8:19948283 [GRCh38]
Chr8:19805794 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1385T>C (p.Phe462Ser) single nucleotide variant Cardiovascular phenotype [RCV002396518] Chr8:19962177 [GRCh38]
Chr8:19819688 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.273G>C (p.Trp91Cys) single nucleotide variant Cardiovascular phenotype [RCV002439234] Chr8:19951792 [GRCh38]
Chr8:19809303 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.396A>T (p.Gly132=) single nucleotide variant Cardiovascular phenotype [RCV002375478]|not provided [RCV003102491] Chr8:19951915 [GRCh38]
Chr8:19809426 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002841954] Chr8:19939443 [GRCh38]
Chr8:19796954 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1251G>C (p.Trp417Cys) single nucleotide variant Cardiovascular phenotype [RCV004146992] Chr8:19961012 [GRCh38]
Chr8:19818523 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.234G>C (p.Val78=) single nucleotide variant not provided [RCV002904770] Chr8:19948325 [GRCh38]
Chr8:19805836 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1287G>A (p.Gln429=) single nucleotide variant not provided [RCV003014642] Chr8:19961048 [GRCh38]
Chr8:19818559 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.339G>A (p.Trp113Ter) single nucleotide variant not provided [RCV002996129] Chr8:19951858 [GRCh38]
Chr8:19809369 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1108G>A (p.Val370Met) single nucleotide variant Cardiovascular phenotype [RCV004068447]|not provided [RCV002994894] Chr8:19959349 [GRCh38]
Chr8:19816860 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV002908074] Chr8:19939492 [GRCh38]
Chr8:19797003 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.57C>G (p.Thr19=) single nucleotide variant not provided [RCV002819839] Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1357T>C (p.Leu453=) single nucleotide variant not provided [RCV002979281] Chr8:19962149 [GRCh38]
Chr8:19819660 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.942del (p.Tyr315fs) deletion not provided [RCV002871382] Chr8:19956007 [GRCh38]
Chr8:19813518 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1035A>G (p.Val345=) single nucleotide variant not provided [RCV002740399] Chr8:19959276 [GRCh38]
Chr8:19816787 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.594T>C (p.Leu198=) single nucleotide variant not provided [RCV002889442] Chr8:19954172 [GRCh38]
Chr8:19811683 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.834T>C (p.Ser278=) single nucleotide variant not provided [RCV003100483] Chr8:19955899 [GRCh38]
Chr8:19813410 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.239A>G (p.His80Arg) single nucleotide variant Cardiovascular phenotype [RCV004153573] Chr8:19948330 [GRCh38]
Chr8:19805841 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.564C>T (p.Asn188=) single nucleotide variant Cardiovascular phenotype [RCV004064904]|not provided [RCV002820221] Chr8:19954142 [GRCh38]
Chr8:19811653 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.792G>A (p.Val264=) single nucleotide variant not provided [RCV002866290] Chr8:19955857 [GRCh38]
Chr8:19813368 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.593T>G (p.Leu198Arg) single nucleotide variant Cardiovascular phenotype [RCV004227234] Chr8:19954171 [GRCh38]
Chr8:19811682 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.464T>C (p.Leu155Pro) single nucleotide variant not specified [RCV002510333] Chr8:19953344 [GRCh38]
Chr8:19810855 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.938T>C (p.Leu313Pro) single nucleotide variant not provided [RCV003037280] Chr8:19956003 [GRCh38]
Chr8:19813514 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.434A>G (p.Glu145Gly) single nucleotide variant not provided [RCV002795166] Chr8:19953314 [GRCh38]
Chr8:19810825 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.981A>G (p.Lys327=) single nucleotide variant Cardiovascular phenotype [RCV003294544]|not provided [RCV002591986] Chr8:19956046 [GRCh38]
Chr8:19813557 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.541+17G>T single nucleotide variant not provided [RCV002820325] Chr8:19953438 [GRCh38]
Chr8:19810949 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.374C>T (p.Ala125Val) single nucleotide variant Cardiovascular phenotype [RCV004131812] Chr8:19951893 [GRCh38]
Chr8:19809404 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.497G>T (p.Gly166Val) single nucleotide variant Cardiovascular phenotype [RCV004173361] Chr8:19953377 [GRCh38]
Chr8:19810888 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1302del (p.Ala435fs) deletion not provided [RCV003040949] Chr8:19961060 [GRCh38]
Chr8:19818571 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.996T>C (p.Thr332=) single nucleotide variant not provided [RCV002741039] Chr8:19956061 [GRCh38]
Chr8:19813572 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.898G>C (p.Gly300Arg) single nucleotide variant not provided [RCV002958269] Chr8:19955963 [GRCh38]
Chr8:19813474 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.206T>C (p.Phe69Ser) single nucleotide variant not provided [RCV002741803] Chr8:19948297 [GRCh38]
Chr8:19805808 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1401C>T (p.Asp467=) single nucleotide variant not provided [RCV002917872] Chr8:19962193 [GRCh38]
Chr8:19819704 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.546C>T (p.Leu182=) single nucleotide variant not provided [RCV002642686] Chr8:19954124 [GRCh38]
Chr8:19811635 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.285T>C (p.Leu95=) single nucleotide variant not provided [RCV003024710]|not specified [RCV004526956] Chr8:19951804 [GRCh38]
Chr8:19809315 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.35C>T (p.Ala12Val) single nucleotide variant Cardiovascular phenotype [RCV003161704]|not provided [RCV003085742] Chr8:19939475 [GRCh38]
Chr8:19796986 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1139+20G>T single nucleotide variant not provided [RCV002572497] Chr8:19959400 [GRCh38]
Chr8:19816911 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.69A>G (p.Gly23=) single nucleotide variant not provided [RCV003005691] Chr8:19939509 [GRCh38]
Chr8:19797020 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1379C>T (p.Ala460Val) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV003228100]|not provided [RCV002918204] Chr8:19962171 [GRCh38]
Chr8:19819682 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.341T>C (p.Leu114Pro) single nucleotide variant not provided [RCV003022390] Chr8:19951860 [GRCh38]
Chr8:19809371 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1018+9G>C single nucleotide variant not provided [RCV002642197] Chr8:19956092 [GRCh38]
Chr8:19813603 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.102T>C (p.Phe34=) single nucleotide variant not provided [RCV002829431] Chr8:19948193 [GRCh38]
Chr8:19805704 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.88+16A>G single nucleotide variant not provided [RCV002790808] Chr8:19939544 [GRCh38]
Chr8:19797055 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-7T>G single nucleotide variant not provided [RCV003044358] Chr8:19965303 [GRCh38]
Chr8:19822814 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.720G>A (p.Gln240=) single nucleotide variant not provided [RCV003047101] Chr8:19954298 [GRCh38]
Chr8:19811809 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1322+9A>G single nucleotide variant not provided [RCV003031988] Chr8:19961092 [GRCh38]
Chr8:19818603 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1182C>T (p.Tyr394=) single nucleotide variant not provided [RCV002899610] Chr8:19960943 [GRCh38]
Chr8:19818454 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1418A>C (p.Lys473Thr) single nucleotide variant Cardiovascular phenotype [RCV004231848] Chr8:19962210 [GRCh38]
Chr8:19819721 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.772G>C (p.Gly258Arg) single nucleotide variant Cardiovascular phenotype [RCV004069949] Chr8:19954350 [GRCh38]
Chr8:19811861 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.510T>C (p.Ser170=) single nucleotide variant not provided [RCV003008464] Chr8:19953390 [GRCh38]
Chr8:19810901 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.126C>T (p.Ala42=) single nucleotide variant not provided [RCV002746231] Chr8:19948217 [GRCh38]
Chr8:19805728 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.945T>C (p.Tyr315=) single nucleotide variant not provided [RCV002600548] Chr8:19956010 [GRCh38]
Chr8:19813521 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.576A>C (p.Ala192=) single nucleotide variant not provided [RCV002671035] Chr8:19954154 [GRCh38]
Chr8:19811665 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.592C>G (p.Leu198Val) single nucleotide variant Cardiovascular phenotype [RCV004083741] Chr8:19954170 [GRCh38]
Chr8:19811681 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.637A>G (p.Thr213Ala) single nucleotide variant not provided [RCV003062154] Chr8:19954215 [GRCh38]
Chr8:19811726 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.818A>G (p.His273Arg) single nucleotide variant Hyperlipoproteinemia, type I [RCV003314049]|not provided [RCV003062155] Chr8:19955883 [GRCh38]
Chr8:19813394 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1320A>G (p.Lys440=) single nucleotide variant not provided [RCV003090615] Chr8:19961081 [GRCh38]
Chr8:19818592 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.935A>G (p.Asn312Ser) single nucleotide variant not provided [RCV003051743] Chr8:19956000 [GRCh38]
Chr8:19813511 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.250-8_250-6del microsatellite LPL-related disorder [RCV003906456]|not provided [RCV003052721]|not specified [RCV003331422] Chr8:19951756..19951758 [GRCh38]
Chr8:19809267..19809269 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1276T>G (p.Phe426Val) single nucleotide variant Cardiovascular phenotype [RCV004093784] Chr8:19961037 [GRCh38]
Chr8:19818548 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.550C>T (p.Pro184Ser) single nucleotide variant Hyperlipoproteinemia, type I [RCV003152950] Chr8:19954128 [GRCh38]
Chr8:19811639 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.6G>A (p.Glu2=) single nucleotide variant not provided [RCV002653600] Chr8:19939446 [GRCh38]
Chr8:19796957 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1290G>T (p.Lys430Asn) single nucleotide variant not provided [RCV002654408] Chr8:19961051 [GRCh38]
Chr8:19818562 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.250-17del deletion not provided [RCV003068980] Chr8:19951751 [GRCh38]
Chr8:19809262 [GRCh37]
Chr8:8p21.3
uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)dup duplication not provided [RCV003154902] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3
uncertain significance
NM_000237.3(LPL):c.68G>A (p.Gly23Glu) single nucleotide variant Cardiovascular phenotype [RCV003172689] Chr8:19939508 [GRCh38]
Chr8:19797019 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.167T>G (p.Leu56Arg) single nucleotide variant Cardiovascular phenotype [RCV003172690] Chr8:19948258 [GRCh38]
Chr8:19805769 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1294A>G (p.Arg432Gly) single nucleotide variant Cardiovascular phenotype [RCV003172691] Chr8:19961055 [GRCh38]
Chr8:19818566 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1011C>T (p.Pro337=) single nucleotide variant Cardiovascular phenotype [RCV003172692]|not provided [RCV003730428] Chr8:19956076 [GRCh38]
Chr8:19813587 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.743C>T (p.Ala248Val) single nucleotide variant Cardiovascular phenotype [RCV003172693] Chr8:19954321 [GRCh38]
Chr8:19811832 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.254C>T (p.Thr85Ile) single nucleotide variant Cardiovascular phenotype [RCV003172694] Chr8:19951773 [GRCh38]
Chr8:19809284 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.899_921dup (p.Asn308delinsGlySerAlaTer) duplication Cardiovascular phenotype [RCV004278842] Chr8:19955957..19955958 [GRCh38]
Chr8:19813468..19813469 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.975C>G (p.Ser325Arg) single nucleotide variant not provided [RCV003229456] Chr8:19956040 [GRCh38]
Chr8:19813551 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1345A>G (p.Lys449Glu) single nucleotide variant Cardiovascular phenotype [RCV004273215] Chr8:19962137 [GRCh38]
Chr8:19819648 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.540T>C (p.Thr180=) single nucleotide variant Cardiovascular phenotype [RCV003176496] Chr8:19953420 [GRCh38]
Chr8:19810931 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.424A>T (p.Met142Leu) single nucleotide variant Cardiovascular phenotype [RCV003283621] Chr8:19951943 [GRCh38]
Chr8:19809454 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.485C>T (p.Ala162Val) single nucleotide variant Cardiovascular phenotype [RCV003283622] Chr8:19953365 [GRCh38]
Chr8:19810876 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.641G>T (p.Arg214Ile) single nucleotide variant not provided [RCV003134098] Chr8:19954219 [GRCh38]
Chr8:19811730 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1414A>C (p.Lys472Gln) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV003228690] Chr8:19962206 [GRCh38]
Chr8:19819717 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.680T>C (p.Val227Ala) single nucleotide variant not provided [RCV003147058] Chr8:19954258 [GRCh38]
Chr8:19811769 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.43C>A (p.Leu15Ile) single nucleotide variant not provided [RCV003221612] Chr8:19939483 [GRCh38]
Chr8:19796994 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.410G>A (p.Arg137Gln) single nucleotide variant Cardiovascular phenotype [RCV004636724]|not specified [RCV003324320] Chr8:19951929 [GRCh38]
Chr8:19809440 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.178G>T (p.Val60Leu) single nucleotide variant not specified [RCV003324323] Chr8:19948269 [GRCh38]
Chr8:19805780 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.430-20A>C single nucleotide variant not specified [RCV003324322] Chr8:19953290 [GRCh38]
Chr8:19810801 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
NM_000237.3(LPL):c.662T>A (p.Ile221Asn) single nucleotide variant not provided [RCV003334303] Chr8:19954240 [GRCh38]
Chr8:19811751 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1387G>C (p.Val463Leu) single nucleotide variant Cardiovascular phenotype [RCV004343669] Chr8:19962179 [GRCh38]
Chr8:19819690 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1166A>C (p.Tyr389Ser) single nucleotide variant not specified [RCV003331906] Chr8:19960927 [GRCh38]
Chr8:19818438 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.89-3C>T single nucleotide variant not specified [RCV003331921] Chr8:19948177 [GRCh38]
Chr8:19805688 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1115A>C (p.Glu372Ala) single nucleotide variant Cardiovascular phenotype [RCV003350831] Chr8:19959356 [GRCh38]
Chr8:19816867 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1014C>A (p.Tyr338Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV003333683]|not provided [RCV003661045] Chr8:19956079 [GRCh38]
Chr8:19813590 [GRCh37]
Chr8:8p21.3
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
NM_000237.3(LPL):c.870G>A (p.Arg290=) single nucleotide variant not provided [RCV003874436] Chr8:19955935 [GRCh38]
Chr8:19813446 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
NM_000237.3(LPL):c.1323-9C>T single nucleotide variant not provided [RCV003712600] Chr8:19962106 [GRCh38]
Chr8:19819617 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p21.3(chr8:19323985-20513166)x1 copy number loss not provided [RCV003483021] Chr8:19323985..20513166 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
NM_000237.3(LPL):c.272G>C (p.Trp91Ser) single nucleotide variant not provided [RCV003443697] Chr8:19951791 [GRCh38]
Chr8:19809302 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1094C>T (p.Ser365Phe) single nucleotide variant not specified [RCV003388394] Chr8:19959335 [GRCh38]
Chr8:19816846 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.542-18_542-16del deletion not provided [RCV003740278] Chr8:19954100..19954102 [GRCh38]
Chr8:19811611..19811613 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+8T>A single nucleotide variant not provided [RCV003831487] Chr8:19962227 [GRCh38]
Chr8:19819738 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+15G>A single nucleotide variant not provided [RCV003825270] Chr8:19954368 [GRCh38]
Chr8:19811879 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.541+18T>C single nucleotide variant not provided [RCV003880126] Chr8:19953439 [GRCh38]
Chr8:19810950 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.821del (p.Leu274fs) deletion not provided [RCV003576243] Chr8:19955886 [GRCh38]
Chr8:19813397 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1428-12_1428-11insT insertion not provided [RCV003739159] Chr8:19965298..19965299 [GRCh38]
Chr8:19822809..19822810 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.214_224del (p.Ser72fs) deletion not provided [RCV003578638] Chr8:19948303..19948313 [GRCh38]
Chr8:19805814..19805824 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.993G>A (p.Lys331=) single nucleotide variant not provided [RCV003578061] Chr8:19956058 [GRCh38]
Chr8:19813569 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.498C>T (p.Gly166=) single nucleotide variant not provided [RCV003713008] Chr8:19953378 [GRCh38]
Chr8:19810889 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.294C>T (p.Ala98=) single nucleotide variant not provided [RCV003663179] Chr8:19951813 [GRCh38]
Chr8:19809324 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.538del (p.Thr180fs) deletion not provided [RCV003695525] Chr8:19953418 [GRCh38]
Chr8:19810929 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1019-10T>C single nucleotide variant not provided [RCV003716312] Chr8:19959250 [GRCh38]
Chr8:19816761 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+16_1139+30del deletion not provided [RCV003694485] Chr8:19959394..19959408 [GRCh38]
Chr8:19816905..19816919 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.591T>C (p.Arg197=) single nucleotide variant not provided [RCV003692740] Chr8:19954169 [GRCh38]
Chr8:19811680 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1323-16C>T single nucleotide variant not provided [RCV003576679] Chr8:19962099 [GRCh38]
Chr8:19819610 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.768A>C (p.Gly256=) single nucleotide variant not provided [RCV003572325] Chr8:19954346 [GRCh38]
Chr8:19811857 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1019-18G>A single nucleotide variant not provided [RCV003738787]|not specified [RCV004765974] Chr8:19959242 [GRCh38]
Chr8:19816753 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-14G>A single nucleotide variant not provided [RCV003578912] Chr8:19965296 [GRCh38]
Chr8:19822807 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.366A>G (p.Pro122=) single nucleotide variant not provided [RCV003714831] Chr8:19951885 [GRCh38]
Chr8:19809396 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.776-19G>A single nucleotide variant not provided [RCV003694758] Chr8:19955822 [GRCh38]
Chr8:19813333 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.939G>C (p.Leu313=) single nucleotide variant Cardiovascular phenotype [RCV004371516]|not provided [RCV003659884] Chr8:19956004 [GRCh38]
Chr8:19813515 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1074C>A (p.Thr358=) single nucleotide variant not provided [RCV003693669] Chr8:19959315 [GRCh38]
Chr8:19816826 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.88+12G>A single nucleotide variant not provided [RCV003694896] Chr8:19939540 [GRCh38]
Chr8:19797051 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.573T>C (p.Tyr191=) single nucleotide variant not provided [RCV003688186] Chr8:19954151 [GRCh38]
Chr8:19811662 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-9C>G single nucleotide variant not provided [RCV003687449] Chr8:19948171 [GRCh38]
Chr8:19805682 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1309G>A (p.Glu437Lys) single nucleotide variant not specified [RCV003489597] Chr8:19961070 [GRCh38]
Chr8:19818581 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.776-15C>G single nucleotide variant not provided [RCV003694172] Chr8:19955826 [GRCh38]
Chr8:19813337 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-20G>A single nucleotide variant not provided [RCV003693491] Chr8:19951749 [GRCh38]
Chr8:19809260 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.534A>G (p.Arg178=) single nucleotide variant not provided [RCV003825830] Chr8:19953414 [GRCh38]
Chr8:19810925 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-15A>T single nucleotide variant not provided [RCV003876109] Chr8:19948165 [GRCh38]
Chr8:19805676 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1140-12T>C single nucleotide variant not provided [RCV003573889] Chr8:19960889 [GRCh38]
Chr8:19818400 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.542-13T>A single nucleotide variant not provided [RCV003716510] Chr8:19954107 [GRCh38]
Chr8:19811618 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1427+14G>A single nucleotide variant not provided [RCV003828228] Chr8:19962233 [GRCh38]
Chr8:19819744 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-16G>A single nucleotide variant not provided [RCV003686408] Chr8:19951753 [GRCh38]
Chr8:19809264 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.216C>T (p.Ser72=) single nucleotide variant not provided [RCV003572395] Chr8:19948307 [GRCh38]
Chr8:19805818 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.902T>G (p.Leu301Arg) single nucleotide variant not provided [RCV003663704] Chr8:19955967 [GRCh38]
Chr8:19813478 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1139+14G>C single nucleotide variant not provided [RCV003579812] Chr8:19959394 [GRCh38]
Chr8:19816905 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.711T>C (p.Gly237=) single nucleotide variant not provided [RCV003548612] Chr8:19954289 [GRCh38]
Chr8:19811800 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-15T>C single nucleotide variant not provided [RCV003580261] Chr8:19965295 [GRCh38]
Chr8:19822806 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-18T>C single nucleotide variant not provided [RCV003851884] Chr8:19965292 [GRCh38]
Chr8:19822803 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.88+14G>C single nucleotide variant not provided [RCV003668072] Chr8:19939542 [GRCh38]
Chr8:19797053 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+20G>A single nucleotide variant not provided [RCV003562050]|not specified [RCV004690431] Chr8:19959400 [GRCh38]
Chr8:19816911 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.693C>T (p.Asp231=) single nucleotide variant not provided [RCV003548818] Chr8:19954271 [GRCh38]
Chr8:19811782 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1019-19C>T single nucleotide variant not provided [RCV003562054] Chr8:19959241 [GRCh38]
Chr8:19816752 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.127dup (p.Leu43fs) duplication not provided [RCV003667633] Chr8:19948215..19948216 [GRCh38]
Chr8:19805726..19805727 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.705T>C (p.Asn235=) single nucleotide variant not provided [RCV003699995] Chr8:19954283 [GRCh38]
Chr8:19811794 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+15G>A single nucleotide variant not provided [RCV003725676] Chr8:19959395 [GRCh38]
Chr8:19816906 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.541+17G>A single nucleotide variant not provided [RCV003561913] Chr8:19953438 [GRCh38]
Chr8:19810949 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1322+11G>A single nucleotide variant not provided [RCV003702540] Chr8:19961094 [GRCh38]
Chr8:19818605 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+12A>T single nucleotide variant not provided [RCV003836246] Chr8:19959392 [GRCh38]
Chr8:19816903 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1014C>G (p.Tyr338Ter) single nucleotide variant not provided [RCV003837923] Chr8:19956079 [GRCh38]
Chr8:19813590 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1158dup (p.Lys387Ter) duplication not provided [RCV003667697] Chr8:19960918..19960919 [GRCh38]
Chr8:19818429..19818430 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.147del (p.Ala50fs) deletion not provided [RCV003700200] Chr8:19948238 [GRCh38]
Chr8:19805749 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.363C>T (p.Tyr121=) single nucleotide variant not provided [RCV003839536] Chr8:19951882 [GRCh38]
Chr8:19809393 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.776-17G>A single nucleotide variant not provided [RCV003726009] Chr8:19955824 [GRCh38]
Chr8:19813335 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1266C>T (p.Ser422=) single nucleotide variant not provided [RCV003700506] Chr8:19961027 [GRCh38]
Chr8:19818538 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+20G>A single nucleotide variant not provided [RCV003717262] Chr8:19954373 [GRCh38]
Chr8:19811884 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.135C>A (p.Thr45=) single nucleotide variant not provided [RCV003702266] Chr8:19948226 [GRCh38]
Chr8:19805737 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.88+1del deletion not provided [RCV003723200] Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.541+16C>T single nucleotide variant not provided [RCV003716968] Chr8:19953437 [GRCh38]
Chr8:19810948 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.810C>A (p.Arg270=) single nucleotide variant not provided [RCV003580761] Chr8:19955875 [GRCh38]
Chr8:19813386 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1161G>A (p.Lys387=) single nucleotide variant not provided [RCV003700647] Chr8:19960922 [GRCh38]
Chr8:19818433 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+20A>G single nucleotide variant not provided [RCV003671059] Chr8:19951968 [GRCh38]
Chr8:19809479 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.249+17G>A single nucleotide variant not provided [RCV003837441] Chr8:19948357 [GRCh38]
Chr8:19805868 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-2A>C single nucleotide variant not provided [RCV003723808] Chr8:19951767 [GRCh38]
Chr8:19809278 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.18G>T (p.Leu6=) single nucleotide variant not provided [RCV003678743] Chr8:19939458 [GRCh38]
Chr8:19796969 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-14G>C single nucleotide variant not provided [RCV003568705] Chr8:19965296 [GRCh38]
Chr8:19822807 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.573T>G (p.Tyr191Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV004546805]|not provided [RCV003683130] Chr8:19954151 [GRCh38]
Chr8:19811662 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic
NM_000237.3(LPL):c.542-18G>T single nucleotide variant not provided [RCV003550418] Chr8:19954102 [GRCh38]
Chr8:19811613 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+14G>A single nucleotide variant not provided [RCV003727559] Chr8:19959394 [GRCh38]
Chr8:19816905 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1113C>G (p.Ala371=) single nucleotide variant not provided [RCV003862529] Chr8:19959354 [GRCh38]
Chr8:19816865 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.465C>G (p.Leu155=) single nucleotide variant not provided [RCV003675765] Chr8:19953345 [GRCh38]
Chr8:19810856 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+13G>C single nucleotide variant not provided [RCV003732018] Chr8:19959393 [GRCh38]
Chr8:19816904 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1019-13T>C single nucleotide variant not provided [RCV003842706] Chr8:19959247 [GRCh38]
Chr8:19816758 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1019-1G>A single nucleotide variant not provided [RCV003857844] Chr8:19959259 [GRCh38]
Chr8:19816770 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1427+13G>A single nucleotide variant not provided [RCV003819311] Chr8:19962232 [GRCh38]
Chr8:19819743 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.57C>T (p.Thr19=) single nucleotide variant not provided [RCV003736078] Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.900G>T (p.Gly300=) single nucleotide variant not provided [RCV003862285] Chr8:19955965 [GRCh38]
Chr8:19813476 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.568G>A (p.Glu190Lys) single nucleotide variant not provided [RCV003858039] Chr8:19954146 [GRCh38]
Chr8:19811657 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.776-8T>C single nucleotide variant not provided [RCV003683946] Chr8:19955833 [GRCh38]
Chr8:19813344 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.710G>A (p.Gly237Asp) single nucleotide variant not provided [RCV003557376] Chr8:19954288 [GRCh38]
Chr8:19811799 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.856A>G (p.Ser286Gly) single nucleotide variant not provided [RCV003557378] Chr8:19955921 [GRCh38]
Chr8:19813432 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.862G>A (p.Ala288Thr) single nucleotide variant Cardiovascular phenotype [RCV004369268]|not provided [RCV003557379] Chr8:19955927 [GRCh38]
Chr8:19813438 [GRCh37]
Chr8:8p21.3
likely pathogenic|uncertain significance
NM_000237.3(LPL):c.249+9G>A single nucleotide variant not provided [RCV003557307] Chr8:19948349 [GRCh38]
Chr8:19805860 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1019-12C>A single nucleotide variant not provided [RCV003676927] Chr8:19959248 [GRCh38]
Chr8:19816759 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-7T>C single nucleotide variant not provided [RCV003685967] Chr8:19951762 [GRCh38]
Chr8:19809273 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+11G>A single nucleotide variant not provided [RCV003731111] Chr8:19951959 [GRCh38]
Chr8:19809470 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1341G>A (p.Arg447=) single nucleotide variant not provided [RCV003678630] Chr8:19962133 [GRCh38]
Chr8:19819644 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.775+14A>C single nucleotide variant not provided [RCV003555628] Chr8:19954367 [GRCh38]
Chr8:19811878 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.557G>A (p.Gly186Glu) single nucleotide variant not provided [RCV003557373] Chr8:19954135 [GRCh38]
Chr8:19811646 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.569A>G (p.Glu190Gly) single nucleotide variant not provided [RCV003557375] Chr8:19954147 [GRCh38]
Chr8:19811658 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.249+19G>A single nucleotide variant not provided [RCV003562538] Chr8:19948359 [GRCh38]
Chr8:19805870 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1428-12G>C single nucleotide variant not provided [RCV003563725] Chr8:19965298 [GRCh38]
Chr8:19822809 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.333G>A (p.Val111=) single nucleotide variant not provided [RCV003866208] Chr8:19951852 [GRCh38]
Chr8:19809363 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-16G>T single nucleotide variant not provided [RCV003737882] Chr8:19951753 [GRCh38]
Chr8:19809264 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.88+2dup duplication not provided [RCV003557371] Chr8:19939529..19939530 [GRCh38]
Chr8:19797040..19797041 [GRCh37]
Chr8:8p21.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000237.3(LPL):c.45C>T (p.Leu15=) single nucleotide variant not provided [RCV003563930] Chr8:19939485 [GRCh38]
Chr8:19796996 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.450G>A (p.Leu150=) single nucleotide variant not provided [RCV003734002] Chr8:19953330 [GRCh38]
Chr8:19810841 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+16G>A single nucleotide variant not provided [RCV003866377] Chr8:19959396 [GRCh38]
Chr8:19816907 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1140-16T>C single nucleotide variant not provided [RCV003675084] Chr8:19960885 [GRCh38]
Chr8:19818396 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_000237.3(LPL):c.987C>T (p.Tyr329=) single nucleotide variant not provided [RCV003685369] Chr8:19956052 [GRCh38]
Chr8:19813563 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1139+14G>T single nucleotide variant not provided [RCV003734698] Chr8:19959394 [GRCh38]
Chr8:19816905 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.447T>G (p.Pro149=) single nucleotide variant not provided [RCV003551499] Chr8:19953327 [GRCh38]
Chr8:19810838 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1323-14A>G single nucleotide variant not provided [RCV003719116] Chr8:19962101 [GRCh38]
Chr8:19819612 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.141A>G (p.Glu47=) single nucleotide variant not provided [RCV003676986] Chr8:19948232 [GRCh38]
Chr8:19805743 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1018+12A>G single nucleotide variant not provided [RCV003847136] Chr8:19956095 [GRCh38]
Chr8:19813606 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1014C>T (p.Tyr338=) single nucleotide variant not provided [RCV003564956] Chr8:19956079 [GRCh38]
Chr8:19813590 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.440_443del (p.Asn147fs) deletion Cardiovascular phenotype [RCV004369267]|not provided [RCV003557372] Chr8:19953318..19953321 [GRCh38]
Chr8:19810829..19810832 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.250-19C>T single nucleotide variant not provided [RCV003562645] Chr8:19951750 [GRCh38]
Chr8:19809261 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.378C>A (p.Gly126=) single nucleotide variant not provided [RCV003867748] Chr8:19951897 [GRCh38]
Chr8:19809408 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-17C>T single nucleotide variant not provided [RCV003870772] Chr8:19948163 [GRCh38]
Chr8:19805674 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.828C>A (p.Ile276=) single nucleotide variant not provided [RCV003844228] Chr8:19955893 [GRCh38]
Chr8:19813404 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1187_1188del (p.Glu396fs) microsatellite not provided [RCV003718664] Chr8:19960946..19960947 [GRCh38]
Chr8:19818457..19818458 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1427+20del deletion not provided [RCV003845462] Chr8:19962239 [GRCh38]
Chr8:19819750 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.594T>A (p.Leu198=) single nucleotide variant not provided [RCV003711612] Chr8:19954172 [GRCh38]
Chr8:19811683 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-19del deletion not provided [RCV003853012] Chr8:19948161 [GRCh38]
Chr8:19805672 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.776-7dup duplication not provided [RCV003863581] Chr8:19955828..19955829 [GRCh38]
Chr8:19813339..19813340 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1071T>C (p.His357=) single nucleotide variant not provided [RCV003681128] Chr8:19959312 [GRCh38]
Chr8:19816823 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.305G>C (p.Arg102Thr) single nucleotide variant not provided [RCV003844247] Chr8:19951824 [GRCh38]
Chr8:19809335 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1139+16_1139+21del deletion not provided [RCV003676894] Chr8:19959394..19959399 [GRCh38]
Chr8:19816905..19816910 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1326G>C (p.Val442=) single nucleotide variant not provided [RCV003564556] Chr8:19962118 [GRCh38]
Chr8:19819629 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.250-14G>A single nucleotide variant not provided [RCV003728369] Chr8:19951755 [GRCh38]
Chr8:19809266 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+16G>A single nucleotide variant not provided [RCV003728466] Chr8:19951964 [GRCh38]
Chr8:19809475 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.541+8A>G single nucleotide variant not provided [RCV003709516] Chr8:19953429 [GRCh38]
Chr8:19810940 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.684G>A (p.Gly228=) single nucleotide variant not provided [RCV003861337] Chr8:19954262 [GRCh38]
Chr8:19811773 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1140-14G>A single nucleotide variant not provided [RCV003848351] Chr8:19960887 [GRCh38]
Chr8:19818398 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+13G>A single nucleotide variant not provided [RCV003730082] Chr8:19951961 [GRCh38]
Chr8:19809472 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.732C>T (p.Asn244=) single nucleotide variant not provided [RCV003848381] Chr8:19954310 [GRCh38]
Chr8:19811821 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.149C>G (p.Ala50Gly) single nucleotide variant not specified [RCV004527029] Chr8:19948240 [GRCh38]
Chr8:19805751 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1295G>C (p.Arg432Thr) single nucleotide variant not provided [RCV004546302] Chr8:19961056 [GRCh38]
Chr8:19818567 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.142G>T (p.Asp48Tyr) single nucleotide variant Cardiovascular phenotype [RCV004522835] Chr8:19948233 [GRCh38]
Chr8:19805744 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.790G>A (p.Val264Met) single nucleotide variant Cardiovascular phenotype [RCV004522837] Chr8:19955855 [GRCh38]
Chr8:19813366 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.409C>T (p.Arg137Trp) single nucleotide variant Cardiovascular phenotype [RCV004522836] Chr8:19951928 [GRCh38]
Chr8:19809439 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1406C>T (p.Ser469Phe) single nucleotide variant Cardiovascular phenotype [RCV004522834] Chr8:19962198 [GRCh38]
Chr8:19819709 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1370A>G (p.Lys457Arg) single nucleotide variant Cardiovascular phenotype [RCV004522833] Chr8:19962162 [GRCh38]
Chr8:19819673 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1127_1137del (p.Ile376fs) deletion Hyperlipidemia, familial combined, LPL related [RCV003992029] Chr8:19959368..19959378 [GRCh38]
Chr8:19816879..19816889 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.97G>C (p.Asp33His) single nucleotide variant Cardiovascular phenotype [RCV004522838] Chr8:19948188 [GRCh38]
Chr8:19805699 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.386_389del (p.Lys129fs) deletion Hyperlipidemia, familial combined, LPL related [RCV003991301] Chr8:19951905..19951908 [GRCh38]
Chr8:19809416..19809419 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.679G>C (p.Val227Leu) single nucleotide variant not specified [RCV004586059] Chr8:19954257 [GRCh38]
Chr8:19811768 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.804C>A (p.His268Gln) single nucleotide variant Hyperlipoproteinemia, type I [RCV004586427] Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.874A>G (p.Ser292Gly) single nucleotide variant not specified [RCV004587929] Chr8:19955939 [GRCh38]
Chr8:19813450 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.478C>G (p.Leu160Val) single nucleotide variant Cardiovascular phenotype [RCV004410610] Chr8:19953358 [GRCh38]
Chr8:19810869 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.756T>G (p.Ile252Met) single nucleotide variant Cardiovascular phenotype [RCV004410611] Chr8:19954334 [GRCh38]
Chr8:19811845 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.764G>C (p.Arg255Thr) single nucleotide variant Cardiovascular phenotype [RCV004410612] Chr8:19954342 [GRCh38]
Chr8:19811853 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.814A>C (p.Ile272Leu) single nucleotide variant Cardiovascular phenotype [RCV004410613] Chr8:19955879 [GRCh38]
Chr8:19813390 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1256A>T (p.Asp419Val) single nucleotide variant Cardiovascular phenotype [RCV004637432] Chr8:19961017 [GRCh38]
Chr8:19818528 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1274G>A (p.Gly425Asp) single nucleotide variant Cardiovascular phenotype [RCV004637435] Chr8:19961035 [GRCh38]
Chr8:19818546 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.397C>G (p.Gln133Glu) single nucleotide variant not specified [RCV004690775] Chr8:19951916 [GRCh38]
Chr8:19809427 [GRCh37]
Chr8:8p21.3
uncertain significance
NC_000008.10:g.(?_19362692)_(20112692_?)del deletion not provided [RCV004583318] Chr8:19362692..20112692 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.974G>C (p.Ser325Thr) single nucleotide variant Cardiovascular phenotype [RCV004637431] Chr8:19956039 [GRCh38]
Chr8:19813550 [GRCh37]
Chr8:8p21.3
uncertain significance
NC_000008.10:g.(?_19805671)_(19805871_?)del deletion not provided [RCV004583310] Chr8:19805671..19805871 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.636C>G (p.Phe212Leu) single nucleotide variant not specified [RCV004690863] Chr8:19954214 [GRCh38]
Chr8:19811725 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.64C>A (p.Arg22Ser) single nucleotide variant Cardiovascular phenotype [RCV004637429] Chr8:19939504 [GRCh38]
Chr8:19797015 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.976A>G (p.Ser326Gly) single nucleotide variant Cardiovascular phenotype [RCV004637437] Chr8:19956041 [GRCh38]
Chr8:19813552 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.296T>C (p.Leu99Pro) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV004698370] Chr8:19951815 [GRCh38]
Chr8:19809326 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.802C>T (p.His268Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV004587947] Chr8:19955867 [GRCh38]
Chr8:19813378 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1264A>G (p.Ser422Gly) single nucleotide variant Cardiovascular phenotype [RCV004637433] Chr8:19961025 [GRCh38]
Chr8:19818536 [GRCh37]
Chr8:8p21.3
uncertain significance
NC_000008.10:g.(?_19796952)_(19822821_?)del deletion not provided [RCV004583308] Chr8:19796952..19822821 [GRCh37]
Chr8:8p21.3
pathogenic
NC_000008.10:g.(?_17915043)_(20112692_?)del deletion not provided [RCV004583317] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3
pathogenic
NC_000008.10:g.(?_19796952)_(19805871_?)del deletion not provided [RCV004583311] Chr8:19796952..19805871 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.250G>T (p.Val84Leu) single nucleotide variant Cardiovascular phenotype [RCV004637430] Chr8:19951769 [GRCh38]
Chr8:19809280 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.259A>T (p.Met87Leu) single nucleotide variant Cardiovascular phenotype [RCV004637436] Chr8:19951778 [GRCh38]
Chr8:19809289 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*12T>G single nucleotide variant not specified [RCV004703055] Chr8:19965322 [GRCh38]
Chr8:19822833 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.278C>T (p.Pro93Leu) single nucleotide variant LPL-related disorder [RCV004731976] Chr8:19951797 [GRCh38]
Chr8:19809308 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.274G>A (p.Val92Met) single nucleotide variant not provided [RCV004723786] Chr8:19951793 [GRCh38]
Chr8:19809304 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.249+5G>A single nucleotide variant not specified [RCV004766768] Chr8:19948345 [GRCh38]
Chr8:19805856 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.913T>C (p.Cys305Arg) single nucleotide variant not specified [RCV004766801] Chr8:19955978 [GRCh38]
Chr8:19813489 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.941G>T (p.Gly314Val) single nucleotide variant LPL-related disorder [RCV004756616] Chr8:19956006 [GRCh38]
Chr8:19813517 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.827T>C (p.Ile276Thr) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV004720575] Chr8:19955892 [GRCh38]
Chr8:19813403 [GRCh37]
Chr8:8p21.3
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI21276447

Predicted Target Of
Summary Value
Count of predictions:2174
Count of miRNA genes:899
Interacting mature miRNAs:1063
Transcripts:ENST00000311322, ENST00000519773, ENST00000520959, ENST00000521994, ENST00000522701, ENST00000523696, ENST00000524029
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407042119GWAS691095_Htriglycerides in VLDL measurement QTL GWAS691095 (human)2e-147triglycerides in VLDL measurement 81996221319962214Human
407035973GWAS684949_Hpolyunsaturated fatty acids to total fatty acids percentage QTL GWAS684949 (human)1e-71polyunsaturated fatty acids to total fatty acids percentage 81996126219961263Human
407148617GWAS797593_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS797593 (human)1e-20very low density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)81996289419962895Human
407089230GWAS738206_Htotal cholesterol change measurement, high density lipoprotein cholesterol measurement QTL GWAS738206 (human)8e-143total cholesterol change measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407064652GWAS713628_Hhigh density lipoprotein particle size measurement QTL GWAS713628 (human)3e-129high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)81996715619967157Human
407269462GWAS918438_Hcholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS918438 (human)6e-179cholesterol:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996126219961263Human
407269461GWAS918437_Hcholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS918437 (human)9e-30cholesterol:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81994557319945574Human
407099480GWAS748456_Hcholesteryl esters to total lipids in small LDL percentage QTL GWAS748456 (human)7e-60cholesteryl esters to total lipids in small LDL percentage 81996221319962214Human
407275610GWAS924586_Hhigh density lipoprotein cholesterol measurement QTL GWAS924586 (human)5e-46high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407148644GWAS797620_Hesterified cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS797620 (human)6e-14esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
407148647GWAS797623_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS797623 (human)5e-14free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407031908GWAS680884_Hcholesteryl ester measurement QTL GWAS680884 (human)7e-128blood lipid amount (VT:0003949)81996126219961263Human
407076964GWAS725940_Hphospholipids:total lipids ratio QTL GWAS725940 (human)8e-40phospholipids:total lipids ratio81996221319962214Human
407193709GWAS842685_Hphosphatidylcholine measurement QTL GWAS842685 (human)1e-13phosphatidylcholine measurement81996715619967157Human
407122029GWAS771005_Hsexual dimorphism measurement QTL GWAS771005 (human)9e-26sexual dimorphism measurement81994648519946486Human
407269482GWAS918458_Hhigh density lipoprotein cholesterol measurement QTL GWAS918458 (human)5e-18high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
407148649GWAS797625_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS797625 (human)2e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407193707GWAS842683_Hphosphatidylcholine measurement QTL GWAS842683 (human)9e-12phosphatidylcholine measurement81996156619961567Human
407136362GWAS785338_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS785338 (human)2e-84phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407193706GWAS842682_Hphosphatidylcholine measurement QTL GWAS842682 (human)4e-12phosphatidylcholine measurement81995872719958728Human
407148660GWAS797636_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS797636 (human)3e-15triglyceride measurement, very low density lipoprotein cholesterol measurementblood triglyceride level (CMO:0000118)81996705219967053Human
406927477GWAS576453_Htriglyceride measurement QTL GWAS576453 (human)4e-51triglyceride measurementblood triglyceride level (CMO:0000118)81996292219962923Human
407148658GWAS797634_Hvery low density lipoprotein cholesterol measurement QTL GWAS797634 (human)2e-15very low density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)81996705219967053Human
407181437GWAS830413_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS830413 (human)2e-166total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407148668GWAS797644_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS797644 (human)8e-11free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407181436GWAS830412_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS830412 (human)1e-25very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407148670GWAS797646_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS797646 (human)3e-09lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407148664GWAS797640_Hhigh density lipoprotein cholesterol measurement QTL GWAS797640 (human)3e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995774519957746Human
407081086GWAS730062_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS730062 (human)4e-11very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996170619961707Human
407148666GWAS797642_Hesterified cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS797642 (human)1e-12esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995774519957746Human
407165050GWAS814026_Hdiacylglycerol 34:1 measurement QTL GWAS814026 (human)3e-36milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996705219967053Human
407187463GWAS836439_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS836439 (human)9e-61cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996126219961263Human
406931467GWAS580443_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS580443 (human)2e-13sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994520019945201Human
407040015GWAS688991_Htotal lipids in very large VLDL measurement QTL GWAS688991 (human)1e-142total lipids in very large VLDL measurement 81996221319962214Human
407312393GWAS961369_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS961369 (human)4e-137blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407345160GWAS994136_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS994136 (human)4e-47free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
406923282GWAS572258_Hsleep duration, triglyceride measurement QTL GWAS572258 (human)4e-09sleep duration, triglyceride measurementblood triglyceride level (CMO:0000118)81994520019945201Human
407101463GWAS750439_Hcholesteryl esters to total lipids in medium HDL percentage QTL GWAS750439 (human)3e-155cholesteryl esters to total lipids in medium HDL percentage 81996126219961263Human
407316498GWAS965474_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS965474 (human)7e-190triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407316507GWAS965483_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS965483 (human)5e-77total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407316506GWAS965482_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS965482 (human)5e-12total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407216164GWAS865140_Hapolipoprotein A 1 measurement QTL GWAS865140 (human)9e-51apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81995422219954223Human
407293989GWAS942965_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS942965 (human)1e-153very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996221319962214Human
407126062GWAS775038_Hsexual dimorphism measurement QTL GWAS775038 (human)1e-60sexual dimorphism measurement81995942319959424Human
407150638GWAS799614_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS799614 (human)5e-19total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996289419962895Human
407152681GWAS801657_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS801657 (human)1e-12phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407195691GWAS844667_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS844667 (human)8e-136blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407195690GWAS844666_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS844666 (human)2e-24blood lipid amount (VT:0003949)blood lipid measurement (CMO:0000050)81994557319945574Human
407148599GWAS797575_Hvery low density lipoprotein cholesterol measurement QTL GWAS797575 (human)1e-09very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407152700GWAS801676_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS801676 (human)2e-19triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996289419962895Human
407330875GWAS979851_Hnon-high density lipoprotein cholesterol measurement QTL GWAS979851 (human)2e-88non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)81996715619967157Human
407181371GWAS830347_Hvery low density lipoprotein cholesterol measurement QTL GWAS830347 (human)5e-188very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407181370GWAS830346_Hvery low density lipoprotein cholesterol measurement QTL GWAS830346 (human)1e-26triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407316679GWAS965655_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS965655 (human)2e-38triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407103682GWAS752658_Hfree cholesterol to total lipids in medium LDL percentage QTL GWAS752658 (human)9e-167free cholesterol to total lipids in medium LDL percentage 81996126219961263Human
407050433GWAS699409_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS699409 (human)1e-96free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407181505GWAS830481_Hhigh density lipoprotein cholesterol measurement QTL GWAS830481 (human)1e-41high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
407181504GWAS830480_Hhigh density lipoprotein cholesterol measurement QTL GWAS830480 (human)6e-40high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995942319959424Human
407275712GWAS924688_Htriglyceride measurement QTL GWAS924688 (human)3e-92triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407181507GWAS830483_Hhigh density lipoprotein cholesterol measurement QTL GWAS830483 (human)5e-41high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996698119966982Human
407181506GWAS830482_Hhigh density lipoprotein cholesterol measurement QTL GWAS830482 (human)2e-29high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407062730GWAS711706_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS711706 (human)3e-150total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407083215GWAS732191_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS732191 (human)7e-12alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407242955GWAS891931_Hfree cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS891931 (human)2e-31free cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996126219961263Human
407177419GWAS826395_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS826395 (human)2e-19very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407118037GWAS767013_Hsexual dimorphism measurement QTL GWAS767013 (human)7e-56sexual dimorphism measurement81995566919955670Human
406923478GWAS572454_Hserum metabolite measurement QTL GWAS572454 (human)9e-09serum metabolite measurement81996202519962026Human
407292126GWAS941102_Hdocosahexaenoic acid measurement QTL GWAS941102 (human)5e-09fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)81996126219961263Human
407339244GWAS988220_Hchylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS988220 (human)8e-177chylomicron measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407339243GWAS988219_Hchylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS988219 (human)9e-20chylomicron measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407169258GWAS818234_Hdiacylglycerol 36:4 measurement QTL GWAS818234 (human)6e-11diacylglycerol 36:4 measurement81996715619967157Human
407101683GWAS750659_Htriglycerides to total lipids in IDL percentage QTL GWAS750659 (human)1e-120triglycerides to total lipids in IDL percentage 81996126219961263Human
407066864GWAS715840_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS715840 (human)1e-24chylomicron measurement, very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996616319966164Human
407181553GWAS830529_Hcoronary artery disease QTL GWAS830529 (human)4e-11coronary artery disease81995601819956019Human
407040247GWAS689223_Hcholesteryl ester measurement QTL GWAS689223 (human)4e-146blood lipid amount (VT:0003949)81996126219961263Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
407216383GWAS865359_Hhigh density lipoprotein cholesterol measurement QTL GWAS865359 (human)3e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996568119965682Human
407310479GWAS959455_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS959455 (human)5e-17chylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81994557319945574Human
407115920GWAS764896_Htriglyceride measurement, alcohol consumption measurement QTL GWAS764896 (human)9e-11triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)81995804519958046Human
407072919GWAS721895_Hapolipoprotein A 1 measurement, apolipoprotein B measurement QTL GWAS721895 (human)3e-132apolipoprotein A 1 measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81996715619967157Human
407249053GWAS898029_Hcholesteryl ester measurement, intermediate density lipoprotein measurement QTL GWAS898029 (human)2e-32blood lipid amount (VT:0003949)blood total cholesterol level (CMO:0000051)81996126219961263Human
406958238GWAS607214_Hhigh density lipoprotein cholesterol measurement QTL GWAS607214 (human)1e-18high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407281829GWAS930805_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS930805 (human)8e-118triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996292219962923Human
407036073GWAS685049_Hbody height QTL GWAS685049 (human)4e-08body height (VT:0001253)body height (CMO:0000106)81995774519957746Human
406950060GWAS599036_Hlipid measurement QTL GWAS599036 (human)3e-14lipid measurementblood lipid measurement (CMO:0000050)81996289419962895Human
407115957GWAS764933_Hhigh density lipoprotein cholesterol measurement QTL GWAS764933 (human)3e-20high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995601819956019Human
407138487GWAS787463_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS787463 (human)2e-24very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996192819961929Human
407181503GWAS830479_Hhigh density lipoprotein cholesterol measurement QTL GWAS830479 (human)7e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994819719948198Human
407296327GWAS945303_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS945303 (human)5e-11blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)81994983019949831Human
407183695GWAS832671_Htriglyceride measurement QTL GWAS832671 (human)1e-29triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407191886GWAS840862_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS840862 (human)8e-18phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407062865GWAS711841_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS711841 (human)9e-161total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407294291GWAS943267_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS943267 (human)1e-96very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996221319962214Human
407257427GWAS906403_Hhigh density lipoprotein cholesterol measurement QTL GWAS906403 (human)3e-121high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996427119964272Human
407140700GWAS789676_Hsexual dimorphism measurement QTL GWAS789676 (human)8e-33sexual dimorphism measurement81995601819956019Human
407116124GWAS765100_Htriglyceride measurement, alcohol consumption measurement QTL GWAS765100 (human)9e-136triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)81995804519958046Human
407150938GWAS799914_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS799914 (human)7e-12phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995942319959424Human
407257432GWAS906408_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS906408 (human)2e-125triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407187812GWAS836788_Hsphingomyelin measurement QTL GWAS836788 (human)4e-12sphingomyelin measurement81996529919965300Human
407150949GWAS799925_Hvery low density lipoprotein particle size measurement QTL GWAS799925 (human)2e-14free cholesterol in very small VLDL measurement blood very low density lipoprotein particle diameter (CMO:0002694)81996698119966982Human
407058785GWAS707761_Heosinophil count QTL GWAS707761 (human)1e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)81995872719958728Human
407148902GWAS797878_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS797878 (human)3e-20triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996698119966982Human
406888806GWAS537782_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS537782 (human)7e-13sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995758719957588Human
407148898GWAS797874_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS797874 (human)4e-19very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996289419962895Human
407320928GWAS969904_Hsphingomyelin measurement QTL GWAS969904 (human)2e-42sphingomyelin measurement81996126219961263Human
406991210GWAS640186_Htriglyceride measurement QTL GWAS640186 (human)5e-35triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407058794GWAS707770_Hserum metabolite measurement QTL GWAS707770 (human)4e-10serum metabolite measurement81996698119966982Human
406991209GWAS640185_Htriglyceride measurement QTL GWAS640185 (human)1e-43triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407314802GWAS963778_Hhigh density lipoprotein cholesterol measurement QTL GWAS963778 (human)6e-43high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995996519959966Human
407023991GWAS672967_Htriglycerides to total lipids in very large VLDL percentage QTL GWAS672967 (human)4e-39triglycerides to total lipids in very large VLDL percentage 81996126219961263Human
407314801GWAS963777_Hhigh density lipoprotein cholesterol measurement QTL GWAS963777 (human)7e-137high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995601819956019Human
407073140GWAS722116_Hhigh density lipoprotein cholesterol measurement QTL GWAS722116 (human)1e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407366015GWAS1014991_Hmetabolic syndrome QTL GWAS1014991 (human)2e-12metabolic syndrome81995619119956192Human
406946169GWAS595145_Hcoronary artery disease QTL GWAS595145 (human)4e-17coronary artery disease81996698119966982Human
407316861GWAS965837_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS965837 (human)5e-268triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407324931GWAS973907_Htriglyceride measurement QTL GWAS973907 (human)2e-146triglyceride measurementblood triglyceride level (CMO:0000118)81995601819956019Human
407257357GWAS906333_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS906333 (human)1e-21cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996715619967157Human
407025932GWAS674908_Htriglyceride measurement QTL GWAS674908 (human)2e-28triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407197973GWAS846949_Htriglyceride measurement QTL GWAS846949 (human)5e-11triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407025943GWAS674919_Hhigh density lipoprotein cholesterol measurement QTL GWAS674919 (human)9e-23high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407118098GWAS767074_Hsexual dimorphism measurement QTL GWAS767074 (human)9e-73sexual dimorphism measurement81995942319959424Human
407118108GWAS767084_Hsexual dimorphism measurement QTL GWAS767084 (human)5e-16sexual dimorphism measurement81995996519959966Human
407150879GWAS799855_Hhigh density lipoprotein cholesterol measurement QTL GWAS799855 (human)1e-13esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407267608GWAS916584_Hapolipoprotein B measurement QTL GWAS916584 (human)8e-26apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81995601819956019Human
407324952GWAS973928_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS973928 (human)4e-30very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996698119966982Human
407308583GWAS957559_Hesterified cholesterol measurement QTL GWAS957559 (human)1e-18esterified cholesterol measurement81996126219961263Human
407111972GWAS760948_Htriglycerides in HDL measurement QTL GWAS760948 (human)1e-100triglycerides in HDL measurement 81996292219962923Human
407095586GWAS744562_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS744562 (human)8e-216alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407298340GWAS947316_Hfatty acid measurement QTL GWAS947316 (human)4e-151fatty acid measurement81996126219961263Human
407359780GWAS1008756_Hlipid measurement QTL GWAS1008756 (human)1e-08lipid measurementblood lipid measurement (CMO:0000050)81996391419963915Human
407298339GWAS947315_Hfatty acid measurement QTL GWAS947315 (human)1e-18triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407310626GWAS959602_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS959602 (human)1e-55chylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996715619967157Human
407023908GWAS672884_Htriglyceride measurement QTL GWAS672884 (human)1e-09triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407150893GWAS799869_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS799869 (human)7e-14free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407257396GWAS906372_Hfatty acid measurement QTL GWAS906372 (human)5e-14fatty acid measurement81994557319945574Human
406968627GWAS617603_Hlow-density lipoprotein receptor-related protein 1, soluble measurement QTL GWAS617603 (human)7e-14low-density lipoprotein receptor-related protein 1, soluble measurement81996126219961263Human
407257397GWAS906373_Hfatty acid measurement QTL GWAS906373 (human)9e-102fatty acid measurement81996221319962214Human
407320893GWAS969869_Hvery low density lipoprotein cholesterol measurement QTL GWAS969869 (human)6e-49very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996024819960249Human
407109951GWAS758927_Hreticulocyte count QTL GWAS758927 (human)1e-25reticulocyte counttotal reticulocyte count (CMO:0003020)81996698119966982Human
407318981GWAS967957_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS967957 (human)2e-182free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407318980GWAS967956_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS967956 (human)1e-24triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407017927GWAS666903_Hmean platelet volume QTL GWAS666903 (human)3e-14mean platelet volumemean platelet volume (CMO:0001348)81996126219961263Human
406925764GWAS574740_Hserum metabolite measurement QTL GWAS574740 (human)3e-09non-alcoholic fatty liver disease81996698119966982Human
407220686GWAS869662_Hblood protein measurement QTL GWAS869662 (human)1e-51blood protein measurementblood protein measurement (CMO:0000028)81996715619967157Human
407327178GWAS976154_Hlow density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS976154 (human)1e-80low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81996221319962214Human
407085517GWAS734493_Hfree cholesterol in medium HDL measurement QTL GWAS734493 (human)5e-79free cholesterol in medium HDL measurement 81996715619967157Human
407241174GWAS890150_Hhigh density lipoprotein cholesterol measurement QTL GWAS890150 (human)4e-81high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407048656GWAS697632_Htriglyceride measurement QTL GWAS697632 (human)1e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
406917591GWAS566567_Htriglyceride measurement QTL GWAS566567 (human)5e-16triglyceride measurementblood triglyceride level (CMO:0000118)81995601819956019Human
407261658GWAS910634_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS910634 (human)2e-218low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81996221319962214Human
407261657GWAS910633_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS910633 (human)9e-27low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407194085GWAS843061_Hdiacylglycerol 34:2 measurement QTL GWAS843061 (human)2e-12milk diacylglycerol amount (VT:0010385)81996529919965300Human
407243236GWAS892212_Hapolipoprotein B measurement QTL GWAS892212 (human)1e-18apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81994819719948198Human
407327210GWAS976186_Hlow density lipoprotein cholesterol measurement QTL GWAS976186 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81994983019949831Human
407282167GWAS931143_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS931143 (human)7e-27cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407267826GWAS916802_Hsphingomyelin measurement QTL GWAS916802 (human)5e-11sphingomyelin measurement81996715619967157Human
407267824GWAS916800_Hsphingomyelin measurement QTL GWAS916800 (human)3e-10sphingomyelin measurement81996192819961929Human
407267825GWAS916801_Hsphingomyelin measurement QTL GWAS916801 (human)6e-11sphingomyelin measurement81996698119966982Human
407165436GWAS814412_Hhigh density lipoprotein cholesterol measurement QTL GWAS814412 (human)4e-89high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407185916GWAS834892_Hphosphatidylcholine measurement QTL GWAS834892 (human)3e-10sphingomyelin measurement81996529919965300Human
407185918GWAS834894_Hphosphatidylcholine measurement QTL GWAS834894 (human)4e-11sphingomyelin measurement81996529919965300Human
407130616GWAS779592_Hesterified cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS779592 (human)3e-59esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407151097GWAS800073_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS800073 (human)3e-08very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81995804519958046Human
407282168GWAS931144_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS931144 (human)1e-221cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407347591GWAS996567_Hhigh density lipoprotein cholesterol measurement QTL GWAS996567 (human)2e-39high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
406983042GWAS632018_Hhigh density lipoprotein cholesterol measurement QTL GWAS632018 (human)2e-36high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
406983043GWAS632019_Hhigh density lipoprotein cholesterol measurement QTL GWAS632019 (human)9e-25high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407310724GWAS959700_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS959700 (human)2e-161chylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996221319962214Human
407124361GWAS773337_Hpolyunsaturated fatty acid measurement QTL GWAS773337 (human)2e-15milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)81995834119958342Human
407083410GWAS732386_Hcholesteryl esters to total lipids in IDL percentage QTL GWAS732386 (human)3e-109cholesteryl esters to total lipids in IDL percentage 81996126219961263Human
407194004GWAS842980_Hphosphatidylcholine measurement QTL GWAS842980 (human)1e-12phosphatidylcholine measurement81996715619967157Human
407194001GWAS842977_Hphosphatidylcholine measurement QTL GWAS842977 (human)4e-11phosphatidylcholine measurement81995872719958728Human
407009686GWAS658662_Hparental longevity QTL GWAS658662 (human)8e-10parental longevity81996715619967157Human
407034263GWAS683239_Hcholesterol in very large VLDL measurement QTL GWAS683239 (human)5e-126cholesterol in very large VLDL measurement 81996221319962214Human
407194003GWAS842979_Hphosphatidylcholine measurement QTL GWAS842979 (human)5e-11phosphatidylcholine measurement81996192819961929Human
407148946GWAS797922_Hhigh density lipoprotein cholesterol measurement QTL GWAS797922 (human)1e-08phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407194002GWAS842978_Hphosphatidylcholine measurement QTL GWAS842978 (human)7e-11phosphatidylcholine measurement81995942319959424Human
407038361GWAS687337_Hfree cholesterol in large VLDL measurement QTL GWAS687337 (human)8e-140free cholesterol in large VLDL measurement 81996221319962214Human
407148952GWAS797928_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS797928 (human)2e-10triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996391419963915Human
406993308GWAS642284_Hreticulocyte measurement QTL GWAS642284 (human)3e-12reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)81996698119966982Human
407269798GWAS918774_Hsphingomyelin measurement QTL GWAS918774 (human)4e-11sphingomyelin measurement81996156619961567Human
407269796GWAS918772_Hsphingomyelin measurement QTL GWAS918772 (human)2e-11sphingomyelin measurement81995872719958728Human
407269797GWAS918773_Hsphingomyelin measurement QTL GWAS918773 (human)2e-11sphingomyelin measurement81995942319959424Human
407159207GWAS808183_Htriglyceride measurement QTL GWAS808183 (human)5e-325triglyceride measurementblood triglyceride level (CMO:0000118)81996616319966164Human
407249315GWAS898291_Hapolipoprotein A 1 measurement QTL GWAS898291 (human)6e-145apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81995601819956019Human
407097769GWAS746745_Htriglycerides to total lipids in large VLDL percentage QTL GWAS746745 (human)3e-10sphingomyelin measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407024046GWAS673022_Hcholesterol in medium HDL measurement QTL GWAS673022 (human)8e-106cholesterol in medium HDL measurement 81996715619967157Human
407269800GWAS918776_Hsphingomyelin measurement QTL GWAS918776 (human)3e-13sphingomyelin measurement81996192819961929Human
407239083GWAS888059_Hsphingomyelin measurement QTL GWAS888059 (human)1e-14sphingomyelin measurement81996221319962214Human
407239082GWAS888058_Hsphingomyelin measurement QTL GWAS888058 (human)1e-10sphingomyelin measurement81995619119956192Human
407269801GWAS918777_Hsphingomyelin measurement QTL GWAS918777 (human)3e-13sphingomyelin measurement81996221319962214Human
407118251GWAS767227_Hsexual dimorphism measurement QTL GWAS767227 (human)9e-83sexual dimorphism measurement81996715619967157Human
407191989GWAS840965_Hdiacylglycerol 34:1 measurement QTL GWAS840965 (human)1e-29milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996529919965300Human
407284158GWAS933134_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS933134 (human)3e-140phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407118267GWAS767243_Hsexual dimorphism measurement QTL GWAS767243 (human)1e-35sexual dimorphism measurement81995601819956019Human
407114308GWAS763284_Hmean corpuscular volume QTL GWAS763284 (human)7e-30mean corpuscular volumemean corpuscular volume (CMO:0000038)81995601819956019Human
407030338GWAS679314_Hhigh density lipoprotein cholesterol measurement QTL GWAS679314 (human)3e-118high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407114309GWAS763285_Hmean corpuscular volume QTL GWAS763285 (human)3e-14mean corpuscular volumemean corpuscular volume (CMO:0000038)81996613719966138Human
407331392GWAS980368_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS980368 (human)4e-184very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996221319962214Human
407310925GWAS959901_Hglycoprotein measurement QTL GWAS959901 (human)2e-38glycoprotein measurement81996126219961263Human
407190098GWAS839074_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS839074 (human)9e-65triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996715619967157Human
407116383GWAS765359_Hpolyunsaturated fatty acids to monounsaturated fatty acids ratio QTL GWAS765359 (human)6e-116polyunsaturated fatty acids to monounsaturated fatty acids ratio 81996126219961263Human
407188071GWAS837047_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS837047 (human)9e-110phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407190113GWAS839089_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS839089 (human)2e-29triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407190114GWAS839090_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS839090 (human)2e-234triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407151214GWAS800190_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS800190 (human)1e-14total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995985019959851Human
407149160GWAS798136_Hvery low density lipoprotein cholesterol measurement QTL GWAS798136 (human)4e-18very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407081581GWAS730557_Hhigh density lipoprotein cholesterol measurement QTL GWAS730557 (human)4e-131high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407112299GWAS761275_Hapolipoprotein B to apolipoprotein A1 ratio QTL GWAS761275 (human)1e-47apolipoprotein B to apolipoprotein A1 ratio 81996698119966982Human
407151220GWAS800196_Hhigh density lipoprotein particle size measurement QTL GWAS800196 (human)2e-16high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)81995942319959424Human
406915711GWAS564687_Htriglyceride measurement QTL GWAS564687 (human)1e-10triglyceride measurementblood triglyceride level (CMO:0000118)81996568119965682Human
407276152GWAS925128_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS925128 (human)4e-83lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407325190GWAS974166_Hvery low density lipoprotein cholesterol measurement QTL GWAS974166 (human)4e-189very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407325189GWAS974165_Hvery low density lipoprotein cholesterol measurement QTL GWAS974165 (human)9e-26very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
406981127GWAS630103_Hcoronary artery disease QTL GWAS630103 (human)3e-08coronary artery disease81996221319962214Human
407196172GWAS845148_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS845148 (human)3e-122cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407167506GWAS816482_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS816482 (human)1e-22lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407167507GWAS816483_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS816483 (human)2e-111lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407294492GWAS943468_Hlow density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS943468 (human)9e-108low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81996292219962923Human
407294491GWAS943467_Hlow density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS943467 (human)2e-11low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407216679GWAS865655_Htriglyceride measurement QTL GWAS865655 (human)3e-17triglyceride measurementblood triglyceride level (CMO:0000118)81996568119965682Human
407202342GWAS851318_Haging QTL GWAS851318 (human)3e-08aging81995601819956019Human
407061028GWAS710004_Hcoronary artery disease QTL GWAS710004 (human)0.0000003coronary artery disease81995566919955670Human
407032375GWAS681351_Htriglycerides in very large VLDL measurement QTL GWAS681351 (human)6e-141triglycerides in very large VLDL measurement 81996126219961263Human
407167537GWAS816513_Htriglyceride measurement QTL GWAS816513 (human)3e-11triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407140913GWAS789889_Hphospholipids in very large HDL measurement QTL GWAS789889 (human)6e-122phospholipids in very large HDL measurement 81996715619967157Human
407167538GWAS816514_Htriglyceride measurement QTL GWAS816514 (human)1e-11sphingomyelin measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407151165GWAS800141_Hhigh density lipoprotein cholesterol measurement QTL GWAS800141 (human)8e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407095864GWAS744840_Htriglyceride measurement QTL GWAS744840 (human)6e-59triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407093953GWAS742929_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS742929 (human)3e-69alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407038662GWAS687638_Hcholesterol in chylomicrons and extremely large VLDL measurement QTL GWAS687638 (human)1e-146cholesterol in chylomicrons and extremely large VLDL measurement 81996126219961263Human
407057095GWAS706071_Hdiglyceride measurement QTL GWAS706071 (human)7e-25diglyceride measurement81996698119966982Human
407038666GWAS687642_Htotal lipids in chylomicrons and extremely large VLDL measurement QTL GWAS687642 (human)6e-126triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407239372GWAS888348_Htriglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS888348 (human)4e-156triglycerides:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996126219961263Human
407239371GWAS888347_Htriglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS888347 (human)7e-25triglycerides:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81994557319945574Human
407128796GWAS777772_Htriglycerides in small LDL measurement QTL GWAS777772 (human)2e-56triglycerides in small LDL measurement 81996715619967157Human
407345886GWAS994862_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS994862 (human)2e-52phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407345885GWAS994861_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS994861 (human)8e-11phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407268060GWAS917036_Hperipheral arterial disease QTL GWAS917036 (human)2e-09peripheral arterial disease81996170619961707Human
407067358GWAS716334_Hcoronary artery disease QTL GWAS716334 (human)8e-14coronary artery disease81996715619967157Human
407085795GWAS734771_Htriglycerides to total lipids in very large HDL percentage QTL GWAS734771 (human)2e-145triglycerides to total lipids in very large HDL percentage 81996221319962214Human
407186150GWAS835126_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS835126 (human)1e-24free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996126219961263Human
407333611GWAS982587_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS982587 (human)2e-27triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407319275GWAS968251_Hhigh density lipoprotein cholesterol measurement QTL GWAS968251 (human)1e-37high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996024819960249Human
407280373GWAS929349_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS929349 (human)4e-137blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407151236GWAS800212_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS800212 (human)1e-13phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995989019959891Human
407091842GWAS740818_Htriglyceride measurement QTL GWAS740818 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407091846GWAS740822_Htriglyceride measurement QTL GWAS740822 (human)3e-91triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407085712GWAS734688_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS734688 (human)2e-15cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996292219962923Human
407280277GWAS929253_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS929253 (human)7e-99free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407095957GWAS744933_Hcholesteryl esters to total lipids in very small VLDL percentage QTL GWAS744933 (human)3e-143cholesteryl esters to total lipids in very small VLDL percentage 81996126219961263Human
407149202GWAS798178_Htriglyceride measurement QTL GWAS798178 (human)6e-19triglyceride measurementblood triglyceride level (CMO:0000118)81996289419962895Human
407151260GWAS800236_Hvery low density lipoprotein particle size measurement QTL GWAS800236 (human)4e-15diacylglycerol 36:3 measurementblood very low density lipoprotein particle diameter (CMO:0002694)81996698119966982Human
407202463GWAS851439_Hphosphatidylcholine measurement QTL GWAS851439 (human)6e-11phosphatidylcholine measurement81995872719958728Human
407071390GWAS720366_Htriglyceride measurement, alcohol drinking QTL GWAS720366 (human)5e-13lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407079586GWAS728562_H1-(1-enyl-palmitoyl)-GPC (P-16:0) measurement QTL GWAS728562 (human)1e-091-(1-enyl-palmitoyl)-GPC (P-16:0) measurement81996698119966982Human
407202465GWAS851441_Hphosphatidylcholine measurement QTL GWAS851441 (human)6e-13phosphatidylcholine measurement81996715619967157Human
407202464GWAS851440_Hphosphatidylcholine measurement QTL GWAS851440 (human)7e-12phosphatidylcholine measurement81996192819961929Human
407030437GWAS679413_Hdegree of unsaturation measurement QTL GWAS679413 (human)3e-60degree of unsaturation measurement 81996126219961263Human
406946478GWAS595454_Htriglyceride measurement QTL GWAS595454 (human)3e-28triglyceride measurementblood triglyceride level (CMO:0000118)81996613719966138Human
407171767GWAS820743_Hdiacylglycerol 34:1 measurement QTL GWAS820743 (human)2e-10milk diacylglycerol amount (VT:0010385)81996192819961929Human
407192246GWAS841222_Hdiacylglycerol 44:7 measurement QTL GWAS841222 (human)3e-11diacylglycerol 44:7 measurement81996529919965300Human
407116477GWAS765453_Htriglyceride measurement, alcohol consumption measurement QTL GWAS765453 (human)2e-198triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)81995804519958046Human
407171768GWAS820744_Hdiacylglycerol 34:1 measurement QTL GWAS820744 (human)9e-11milk diacylglycerol amount (VT:0010385)81996221319962214Human
407296838GWAS945814_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS945814 (human)1e-158very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407296837GWAS945813_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS945813 (human)3e-17very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407130944GWAS779920_Htriglyceride:HDL cholesterol ratio QTL GWAS779920 (human)5e-330triglyceride:HDL cholesterol ratio81995438619954387Human
406934341GWAS583317_Hserum metabolite measurement QTL GWAS583317 (human)7e-14serum metabolite measurement81996202519962026Human
407024454GWAS673430_Hfree cholesterol to total lipids in very small VLDL percentage QTL GWAS673430 (human)4e-29free cholesterol to total lipids in very small VLDL percentage 81996221319962214Human
407016279GWAS665255_Htriglyceride measurement QTL GWAS665255 (human)1e-22triglyceride measurementblood triglyceride level (CMO:0000118)81995601819956019Human
407130972GWAS779948_Htriglyceride:HDL cholesterol ratio QTL GWAS779948 (human)1e-136triglyceride:HDL cholesterol ratio81995601819956019Human
407165788GWAS814764_Hdiacylglycerol 36:3 measurement QTL GWAS814764 (human)5e-13diacylglycerol 36:3 measurement81996192819961929Human
407130973GWAS779949_Htriglyceride:HDL cholesterol ratio QTL GWAS779949 (human)2e-131triglyceride:HDL cholesterol ratio81995677819956779Human
407034715GWAS683691_Hdocosahexaenoic acid to total fatty acids percentage QTL GWAS683691 (human)7e-37docosahexaenoic acid to total fatty acids percentage 81996126219961263Human
407165789GWAS814765_Hdiacylglycerol 36:3 measurement QTL GWAS814765 (human)2e-12sphingomyelin measurement81996221319962214Human
407083866GWAS732842_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS732842 (human)1e-74free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407096153GWAS745129_Hcholesterol to total lipids in very small VLDL percentage QTL GWAS745129 (human)1e-133cholesterol to total lipids in very small VLDL percentage 81996126219961263Human
407165790GWAS814766_Hdiacylglycerol 36:3 measurement QTL GWAS814766 (human)3e-15diacylglycerol 36:3 measurement81996715619967157Human
407165784GWAS814760_Hdiacylglycerol 36:3 measurement QTL GWAS814760 (human)5e-13diacylglycerol 36:3 measurement81995872719958728Human
407165785GWAS814761_Hdiacylglycerol 36:3 measurement QTL GWAS814761 (human)7e-13diacylglycerol 36:3 measurement81995942319959424Human
407165786GWAS814762_Hdiacylglycerol 36:3 measurement QTL GWAS814762 (human)1e-12diacylglycerol 36:3 measurement81996156619961567Human
407305049GWAS954025_Htype 2 diabetes mellitus QTL GWAS954025 (human)0.0000002type 2 diabetes mellitus81996221319962214Human
407346023GWAS994999_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS994999 (human)4e-85blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407317350GWAS966326_Hhigh density lipoprotein cholesterol measurement QTL GWAS966326 (human)9e-57high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995422219954223Human
407206765GWAS855741_Htriglyceride measurement QTL GWAS855741 (human)2e-44triglyceride measurementblood triglyceride level (CMO:0000118)81995422219954223Human
407114606GWAS763582_Htotal lipids in medium HDL measurement QTL GWAS763582 (human)1e-67total lipids in medium HDL measurement 81996715619967157Human
407130993GWAS779969_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS779969 (human)6e-45cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407280496GWAS929472_Hhigh density lipoprotein cholesterol measurement QTL GWAS929472 (human)1e-43high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407260031GWAS909007_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS909007 (human)4e-08low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407026553GWAS675529_Htriglycerides to total lipids in small HDL percentage QTL GWAS675529 (human)1e-200triglycerides to phosphoglycerides ratio 81996126219961263Human
407331706GWAS980682_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS980682 (human)1e-182very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407331705GWAS980681_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS980681 (human)7e-29very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407177988GWAS826964_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS826964 (human)2e-17total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407276291GWAS925267_Htriglyceride measurement QTL GWAS925267 (human)4e-15triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407096068GWAS745044_Hphospholipids in medium HDL measurement QTL GWAS745044 (human)3e-56phospholipids in medium HDL measurement 81996715619967157Human
407186184GWAS835160_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS835160 (human)2e-09low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81994995119949952Human
407016205GWAS665181_Hhigh density lipoprotein cholesterol measurement QTL GWAS665181 (human)2e-19high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995601819956019Human
407079698GWAS728674_HBMI-adjusted waist-hip ratio QTL GWAS728674 (human)4e-08BMI-adjusted waist-hip ratio81996715619967157Human
407304987GWAS953963_Htype 2 diabetes mellitus QTL GWAS953963 (human)0.000003type 2 diabetes mellitus81996221319962214Human
407081758GWAS730734_Hcholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS730734 (human)1e-30cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996292219962923Human
407329573GWAS978549_Hlipoprotein measurement QTL GWAS978549 (human)4e-65lipoprotein measurementblood lipoprotein measurement (CMO:0002690)81996715619967157Human
407024417GWAS673393_Hcholesterol to total lipids in large LDL percentage QTL GWAS673393 (human)9e-46cholesterol to total lipids in large LDL percentage 81996126219961263Human
407034662GWAS683638_Htriacylglycerol 58:7 measurement QTL GWAS683638 (human)2e-08blood triglyceride amount (VT:0002644)blood total cholesterol level (CMO:0000051)81996715619967157Human
407112483GWAS761459_Hphospholipids in VLDL measurement QTL GWAS761459 (human)2e-101phospholipids in VLDL measurement 81996221319962214Human
407085875GWAS734851_Hlipid measurement QTL GWAS734851 (human)8e-24lipid measurementblood lipid measurement (CMO:0000050)81996613719966138Human
407288629GWAS937605_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS937605 (human)3e-10very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994983019949831Human
407036726GWAS685702_Hphospholipids in very large VLDL measurement QTL GWAS685702 (human)2e-143triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407081781GWAS730757_Hfree cholesterol to total lipids in small VLDL percentage QTL GWAS730757 (human)3e-130free cholesterol to total lipids in small VLDL percentage 81996126219961263Human
406903606GWAS552582_Htriglyceride measurement QTL GWAS552582 (human)8e-81triglyceride measurementblood triglyceride level (CMO:0000118)81996616319966164Human
407032636GWAS681612_Htotal lipids in large VLDL QTL GWAS681612 (human)2e-141total lipids in large VLDL81996221319962214Human
407096125GWAS745101_Hphospholipids:total lipids ratio QTL GWAS745101 (human)1e-99phospholipids:total lipids ratio81996715619967157Human
407329730GWAS978706_Hfatty acid measurement QTL GWAS978706 (human)7e-75fatty acid measurement81996221319962214Human
407100360GWAS749336_Hphospholipids:total lipids ratio QTL GWAS749336 (human)2e-52phospholipids:total lipids ratio81996221319962214Human
407172040GWAS821016_Hdiacylglycerol 34:1 measurement QTL GWAS821016 (human)2e-11milk diacylglycerol amount (VT:0010385)81996715619967157Human
407057358GWAS706334_Hserum metabolite measurement QTL GWAS706334 (human)8e-12serum metabolite measurement81996698119966982Human
407057356GWAS706332_Hserum metabolite measurement QTL GWAS706332 (human)7e-12serum metabolite measurement81996698119966982Human
407266262GWAS915238_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS915238 (human)8e-24total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407266263GWAS915239_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS915239 (human)2e-130total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407057362GWAS706338_Hserum metabolite measurement QTL GWAS706338 (human)9e-12serum metabolite measurement81996715619967157Human
407038933GWAS687909_Hglycoprotein measurement QTL GWAS687909 (human)4e-29glycoprotein measurement81996126219961263Human
407319515GWAS968491_Hhigh density lipoprotein cholesterol measurement QTL GWAS968491 (human)6e-94high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407149529GWAS798505_Hisoleucine measurement QTL GWAS798505 (human)7e-10isoleucine measurementblood amino acid measurement (CMO:0003730)81995942319959424Human
407137252GWAS786228_Htotal lipids in very large HDL measurement QTL GWAS786228 (human)3e-93total lipids in very large HDL measurement 81996715619967157Human
407170029GWAS819005_Hdiacylglycerol 34:2 measurement QTL GWAS819005 (human)2e-12milk diacylglycerol amount (VT:0010385)81996192819961929Human
407170030GWAS819006_Hdiacylglycerol 34:2 measurement QTL GWAS819006 (human)6e-12milk diacylglycerol amount (VT:0010385)81996221319962214Human
407170031GWAS819007_Hdiacylglycerol 34:2 measurement QTL GWAS819007 (human)7e-14milk diacylglycerol amount (VT:0010385)81996698119966982Human
407280621GWAS929597_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS929597 (human)9e-67phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407170025GWAS819001_Hdiacylglycerol 34:2 measurement QTL GWAS819001 (human)7e-12milk diacylglycerol amount (VT:0010385)81995872719958728Human
407170026GWAS819002_Hdiacylglycerol 34:2 measurement QTL GWAS819002 (human)1e-11milk diacylglycerol amount (VT:0010385)81995942319959424Human
407170027GWAS819003_Hdiacylglycerol 34:2 measurement QTL GWAS819003 (human)6e-11milk diacylglycerol amount (VT:0010385)81996156619961567Human
406932466GWAS581442_Hserum metabolite measurement QTL GWAS581442 (human)4e-10serum metabolite measurement81996202519962026Human
407198705GWAS847681_Hnon-alcoholic fatty liver disease QTL GWAS847681 (human)5e-10non-alcoholic fatty liver disease81996192819961929Human
407170032GWAS819008_Hdiacylglycerol 34:2 measurement QTL GWAS819008 (human)4e-14milk diacylglycerol amount (VT:0010385)81996715619967157Human
407333882GWAS982858_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS982858 (human)7e-191triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407071618GWAS720594_Htriglyceride measurement, alcohol drinking QTL GWAS720594 (human)5e-137triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)81995804519958046Human
407202691GWAS851667_Hphosphatidylcholine measurement QTL GWAS851667 (human)3e-11phosphatidylcholine measurement81995872719958728Human
407131022GWAS779998_Htriglyceride:HDL cholesterol ratio QTL GWAS779998 (human)1e-87triglyceride:HDL cholesterol ratio81995601819956019Human
407131023GWAS779999_Htriglyceride:HDL cholesterol ratio QTL GWAS779999 (human)1e-76triglyceride:HDL cholesterol ratio81995677819956779Human
407167880GWAS816856_Hdiacylglycerol 34:1 measurement QTL GWAS816856 (human)3e-10milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996391419963915Human
407167882GWAS816858_Hdiacylglycerol 34:1 measurement QTL GWAS816858 (human)4e-10milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996427119964272Human
407290770GWAS939746_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS939746 (human)4e-18free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407311251GWAS960227_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS960227 (human)2e-130total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407290771GWAS939747_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS939747 (human)6e-107free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407151507GWAS800483_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS800483 (human)2e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996705219967053Human
407151517GWAS800493_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS800493 (human)2e-11free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407151518GWAS800494_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS800494 (human)8e-13very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996705219967053Human
407151514GWAS800490_Hvery low density lipoprotein cholesterol measurement QTL GWAS800490 (human)6e-12very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407327640GWAS976616_Hfatty acid measurement QTL GWAS976616 (human)3e-45fatty acid measurement81996221319962214Human
407151515GWAS800491_Hvery low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS800491 (human)2e-12very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407278503GWAS927479_Htriglyceride measurement QTL GWAS927479 (human)1e-08triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407151520GWAS800496_Hvery low density lipoprotein cholesterol measurement QTL GWAS800496 (human)7e-13very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407169953GWAS818929_Hdiacylglycerol 34:1 measurement QTL GWAS818929 (human)3e-28milk diacylglycerol amount (VT:0010385)81996340519963406Human
407151522GWAS800498_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS800498 (human)7e-12very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407182255GWAS831231_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS831231 (human)8e-28very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
406926251GWAS575227_Hserum metabolite measurement QTL GWAS575227 (human)9e-08serum metabolite measurement81996202519962026Human
407096233GWAS745209_Hhigh density lipoprotein cholesterol measurement QTL GWAS745209 (human)9e-78high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407075757GWAS724733_Homega-6 polyunsaturated fatty acid measurement QTL GWAS724733 (human)4e-15omega-6 polyunsaturated fatty acid measurement81995834119958342Human
407073709GWAS722685_Hapolipoprotein B measurement QTL GWAS722685 (human)4e-55apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81996715619967157Human
407030705GWAS679681_Hvery low density lipoprotein cholesterol measurement QTL GWAS679681 (human)2e-146very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407032758GWAS681734_Htotal lipids in HDL measurement QTL GWAS681734 (human)2e-80total lipids in HDL measurement 81996715619967157Human
407182256GWAS831232_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS831232 (human)9e-193very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
406895543GWAS544519_Hlipid measurement QTL GWAS544519 (human)4e-13lipid measurementblood lipid measurement (CMO:0000050)81996613719966138Human
407243706GWAS892682_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS892682 (human)3e-158blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)81996221319962214Human
407098435GWAS747411_Htriglyceride measurement QTL GWAS747411 (human)4e-18triglyceride measurementblood triglyceride level (CMO:0000118)81994912019949121Human
407098434GWAS747410_Htriglyceride measurement QTL GWAS747410 (human)9e-21triglyceride measurementblood triglyceride level (CMO:0000118)81994912019949121Human
407098437GWAS747413_Htriglyceride measurement QTL GWAS747413 (human)8e-19triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407098436GWAS747412_Htriglyceride measurement QTL GWAS747412 (human)2e-130triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407313493GWAS962469_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS962469 (human)2e-168very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407073878GWAS722854_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS722854 (human)2e-17alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407317599GWAS966575_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS966575 (human)3e-103very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407202909GWAS851885_Hphosphatidylcholine measurement QTL GWAS851885 (human)6e-13phosphatidylcholine measurement81996698119966982Human
407116893GWAS765869_Hsexual dimorphism measurement QTL GWAS765869 (human)9e-45sexual dimorphism measurement81995351219953515Human
407202908GWAS851884_Hphosphatidylcholine measurement QTL GWAS851884 (human)7e-12phosphatidylcholine measurement81996221319962214Human
407202906GWAS851882_Hphosphatidylcholine measurement QTL GWAS851882 (human)6e-11phosphatidylcholine measurement81995942319959424Human
406928478GWAS577454_Hserum metabolite measurement QTL GWAS577454 (human)2e-12triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996698119966982Human
407290983GWAS939959_Hhigh density lipoprotein cholesterol measurement QTL GWAS939959 (human)1e-45high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996340519963406Human
407241829GWAS890805_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS890805 (human)5e-98lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407116909GWAS765885_Hsexual dimorphism measurement QTL GWAS765885 (human)9e-19sexual dimorphism measurement81995677819956779Human
407204969GWAS853945_Hphosphatidylcholine measurement QTL GWAS853945 (human)4e-11phosphatidylcholine measurement81996715619967157Human
407204968GWAS853944_Hphosphatidylcholine measurement QTL GWAS853944 (human)4e-11phosphatidylcholine measurement81996698119966982Human
407293035GWAS942011_Hhigh density lipoprotein cholesterol measurement QTL GWAS942011 (human)5e-632high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407000178GWAS649154_Hcoronary artery disease QTL GWAS649154 (human)0.000002coronary artery disease81995737119957372Human
407239797GWAS888773_Hapolipoprotein A 1 measurement QTL GWAS888773 (human)1e-85apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81996715619967157Human
406926453GWAS575429_Hapolipoprotein A 1 measurement QTL GWAS575429 (human)5e-340apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81996289419962895Human
407073910GWAS722886_Htriglyceride measurement, alcohol drinking QTL GWAS722886 (human)4e-16triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)81995804519958046Human
407123059GWAS772035_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS772035 (human)1e-14cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996292219962923Human
407014527GWAS663503_HHMG CoA reductase inhibitor use measurement QTL GWAS663503 (human)5e-10Abdominal Aortic Aneurysm81995601819956019Human
407184507GWAS833483_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS833483 (human)5e-15triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407149574GWAS798550_Hhigh density lipoprotein particle size measurement QTL GWAS798550 (human)3e-16high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)81995942319959424Human
407331843GWAS980819_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS980819 (human)1e-93very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407149570GWAS798546_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS798546 (human)6e-17total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995985019959851Human
407045133GWAS694109_Hsexual dimorphism measurement QTL GWAS694109 (human)3e-13sexual dimorphism measurement81996523019965231Human
407288852GWAS937828_Hfatty acid measurement QTL GWAS937828 (human)3e-97fatty acid measurement81996221319962214Human
407239699GWAS888675_Hsphingomyelin measurement QTL GWAS888675 (human)4e-10sphingomyelin measurement81995619119956192Human
407090206GWAS739182_Htriglycerides in small HDL measurement QTL GWAS739182 (human)1e-138triglycerides in small HDL measurementblood high density lipoprotein triglyceride level (CMO:0002686)81996221319962214Human
407014432GWAS663408_HHMG CoA reductase inhibitor use measurement QTL GWAS663408 (human)3e-21HMG CoA reductase inhibitor use measurement81996715619967157Human
407333922GWAS982898_Hhigh density lipoprotein cholesterol measurement QTL GWAS982898 (human)3e-576high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407168052GWAS817028_Htriglyceride measurement QTL GWAS817028 (human)7e-11sphingomyelin measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407094321GWAS743297_Htriglycerides to total lipids in large HDL percentage QTL GWAS743297 (human)5e-178triglycerides to total lipids in large HDL percentage 81996221319962214Human
407325749GWAS974725_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS974725 (human)2e-173triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996221319962214Human
407168050GWAS817026_Htriglyceride measurement QTL GWAS817026 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)81995872719958728Human
407075893GWAS724869_Hphospholipids:total lipids ratio QTL GWAS724869 (human)3e-23reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)81996698119966982Human
407168051GWAS817027_Htriglyceride measurement QTL GWAS817027 (human)4e-10triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407266353GWAS915329_Hhigh density lipoprotein cholesterol measurement QTL GWAS915329 (human)9e-41high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996698119966982Human
407333945GWAS982921_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS982921 (human)1e-105very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407151808GWAS800784_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS800784 (human)1e-09free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407147720GWAS796696_Htriglyceride measurement QTL GWAS796696 (human)3e-08triglyceride measurementblood triglyceride level (CMO:0000118)81996529919965300Human
407041228GWAS690204_Hphospholipids in chylomicrons and extremely large VLDL measurement QTL GWAS690204 (human)1e-143phospholipids in chylomicrons and extremely large VLDL measurement 81996126219961263Human
407248072GWAS897048_Htype 2 diabetes mellitus QTL GWAS897048 (human)7e-09type 2 diabetes mellitus81996221319962214Human
406928593GWAS577569_Hsexual dimorphism measurement QTL GWAS577569 (human)3e-10sexual dimorphism measurement81995758719957588Human
406918355GWAS567331_Hlow density lipoprotein cholesterol measurement QTL GWAS567331 (human)1e-21low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996698119966982Human
407041233GWAS690209_Htotal lipids in medium VLDL QTL GWAS690209 (human)6e-75total lipids in medium VLDL81996342219963423Human
407090384GWAS739360_Hphospholipids in medium HDL measurement QTL GWAS739360 (human)5e-60phospholipids in medium HDL measurement 81996715619967157Human
406895828GWAS544804_Hlipid measurement QTL GWAS544804 (human)2e-15lipid measurementblood lipid measurement (CMO:0000050)81996613719966138Human
407330002GWAS978978_Htriglyceride measurement, phospholipid measurement QTL GWAS978978 (human)4e-257triglyceride measurement, phospholipid measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407061718GWAS710694_Hserum metabolite measurement QTL GWAS710694 (human)0.0000006serum metabolite measurement81996698119966982Human
407330001GWAS978977_Htriglyceride measurement, phospholipid measurement QTL GWAS978977 (human)1e-35triglyceride measurement, phospholipid measurementblood triglyceride level (CMO:0000118)81994557319945574Human
407149788GWAS798764_Hvery low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS798764 (human)1e-17very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407114973GWAS763949_Htriglyceride measurement, alcohol consumption measurement QTL GWAS763949 (human)5e-16triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)81995804519958046Human
407250141GWAS899117_HAbdominal Aortic Aneurysm QTL GWAS899117 (human)9e-19Abdominal Aortic Aneurysm81996289419962895Human
407125210GWAS774186_Hsexual dimorphism measurement QTL GWAS774186 (human)5e-13sexual dimorphism measurement81995996519959966Human
407026913GWAS675889_Hmetabolic syndrome QTL GWAS675889 (human)3e-11metabolic syndrome81995942319959424Human
407327972GWAS976948_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS976948 (human)3e-34very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407149792GWAS798768_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS798768 (human)6e-18very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407098599GWAS747575_Htriglyceride measurement QTL GWAS747575 (human)1e-146triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407084263GWAS733239_Hesterified cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS733239 (human)3e-99esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407098598GWAS747574_Htriglyceride measurement QTL GWAS747574 (human)7e-163triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407149794GWAS798770_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS798770 (human)2e-18triglyceride measurement, very low density lipoprotein cholesterol measurementblood cholesterol level (CMO:0002280)81995872719958728Human
407098597GWAS747573_Htriglyceride measurement QTL GWAS747573 (human)0.000001triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407098596GWAS747572_Htriglyceride measurement QTL GWAS747572 (human)1e-11triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
406930665GWAS579641_Hsleep duration, triglyceride measurement QTL GWAS579641 (human)1e-15sleep duration, triglyceride measurementblood triglyceride level (CMO:0000118)81996568119965682Human
407098603GWAS747579_Htriglyceride measurement QTL GWAS747579 (human)5e-177triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
406930664GWAS579640_Hsleep duration, triglyceride measurement QTL GWAS579640 (human)8e-17sleep duration, triglyceride measurementblood triglyceride level (CMO:0000118)81995474119954742Human
407098602GWAS747578_Htriglyceride measurement QTL GWAS747578 (human)0.000008triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407098601GWAS747577_Htriglyceride measurement QTL GWAS747577 (human)4e-12triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407026921GWAS675897_Hmetabolic syndrome QTL GWAS675897 (human)2e-09metabolic syndrome81995872719958728Human
407098600GWAS747576_Htriglyceride measurement QTL GWAS747576 (human)6e-17triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407098607GWAS747583_Htriglyceride measurement QTL GWAS747583 (human)0.000008triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407282923GWAS931899_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS931899 (human)5e-202cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407098606GWAS747582_Htriglyceride measurement QTL GWAS747582 (human)5e-12phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407098605GWAS747581_Htriglyceride measurement QTL GWAS747581 (human)1e-17triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407098604GWAS747580_Htriglyceride measurement QTL GWAS747580 (human)9e-147triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407184629GWAS833605_Hhigh density lipoprotein cholesterol measurement QTL GWAS833605 (human)2e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996391419963915Human
407129333GWAS778309_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS778309 (human)1e-18cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996292219962923Human
407342326GWAS991302_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS991302 (human)2e-44free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407342325GWAS991301_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS991301 (human)1e-10free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407131382GWAS780358_Hfree cholesterol in very large HDL measurement QTL GWAS780358 (human)2e-79free cholesterol in very large HDL measurement 81996715619967157Human
407164151GWAS813127_Hdiacylglycerol 34:2 measurement QTL GWAS813127 (human)2e-36milk diacylglycerol amount (VT:0010385)81996705219967053Human
407098608GWAS747584_Htriglyceride measurement QTL GWAS747584 (human)1e-177triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407309555GWAS958531_Htriglyceride measurement QTL GWAS958531 (human)6e-70triglyceride measurementblood triglyceride level (CMO:0000118)81996342219963423Human
407178493GWAS827469_Hvery low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS827469 (human)1e-13very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407176444GWAS825420_Hhigh density lipoprotein cholesterol measurement QTL GWAS825420 (human)7e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407176447GWAS825423_Hesterified cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS825423 (human)8e-15esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407164159GWAS813135_Hdiacylglycerol 34:2 measurement QTL GWAS813135 (human)4e-28blood lipid amount (VT:0003949)blood triglyceride level (CMO:0000118)81996340519963406Human
407178490GWAS827466_Hvery low density lipoprotein cholesterol measurement QTL GWAS827466 (human)1e-16very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407168132GWAS817108_Hdiacylglycerol 34:2 measurement QTL GWAS817108 (human)4e-12milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996653419966535Human
407151750GWAS800726_Hfatty acid measurement QTL GWAS800726 (human)1e-13fatty acid measurement81996289419962895Human
407125121GWAS774097_Hsexual dimorphism measurement QTL GWAS774097 (human)2e-09sexual dimorphism measurement81995758719957588Human
407037063GWAS686039_Htriglycerides in small LDL measurement QTL GWAS686039 (human)5e-121triglycerides in small LDL measurement 81996126219961263Human
407297153GWAS946129_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS946129 (human)8e-94very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407168131GWAS817107_Hdiacylglycerol 34:2 measurement QTL GWAS817107 (human)9e-14milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996616319966164Human
407090312GWAS739288_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS739288 (human)2e-64cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996705219967053Human
407309450GWAS958426_Hchylomicron measurement, triglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS958426 (human)9e-139chylomicron measurement, triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407309449GWAS958425_Hchylomicron measurement, triglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS958425 (human)3e-13blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407030938GWAS679914_Hlow density lipoprotein particle size measurement QTL GWAS679914 (human)4e-30low density lipoprotein particle size measurementblood low density lipoprotein particle diameter (CMO:0002693)81996126219961263Human
407293085GWAS942061_Hhigh density lipoprotein cholesterol measurement QTL GWAS942061 (human)4e-106high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994819719948198Human
407092383GWAS741359_Htriglyceride measurement QTL GWAS741359 (human)6e-158triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407092380GWAS741356_Htriglyceride measurement QTL GWAS741356 (human)3e-09triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407133350GWAS782326_Htriglyceride:HDL cholesterol ratio QTL GWAS782326 (human)6e-179triglyceride:HDL cholesterol ratio81995438619954387Human
407182497GWAS831473_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS831473 (human)2e-23blood lipid amount (VT:0003949)blood very low density lipoprotein particle diameter (CMO:0002694)81994557319945574Human
407000230GWAS649206_Hcoronary artery disease QTL GWAS649206 (human)0.0000007coronary artery disease81995872719958728Human
407000229GWAS649205_Hcoronary artery disease QTL GWAS649205 (human)1e-08coronary artery disease81995811219958113Human
407182498GWAS831474_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS831474 (human)1e-145blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407000234GWAS649210_Hcoronary artery disease QTL GWAS649210 (human)2e-08coronary artery disease81996192819961929Human
407000235GWAS649211_Hcoronary artery disease QTL GWAS649211 (human)0.000004coronary artery disease81995747719957478Human
407084202GWAS733178_Htriglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS733178 (human)2e-59triglycerides:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996715619967157Human
407082153GWAS731129_Hhigh density lipoprotein cholesterol measurement QTL GWAS731129 (human)4e-50high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407000232GWAS649208_Hcoronary artery disease QTL GWAS649208 (human)1e-08coronary artery disease81995993219959933Human
407084201GWAS733177_Hobsolete_red blood cell distribution width QTL GWAS733177 (human)3e-20obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)81996296919962970Human
407084200GWAS733176_Hobsolete_red blood cell distribution width QTL GWAS733176 (human)3e-17obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)81995601819956019Human
407000238GWAS649214_Hcoronary artery disease QTL GWAS649214 (human)4e-09coronary artery disease81996372219963723Human
406924461GWAS573437_Hserum metabolite measurement QTL GWAS573437 (human)1e-13sphingomyelin measurement81996698119966982Human
407000239GWAS649215_Hcoronary artery disease QTL GWAS649215 (human)5e-09coronary artery disease81996698119966982Human
407360680GWAS1009656_Hdrug use measurement QTL GWAS1009656 (human)2e-08drug use measurement81995804519958046Human
407041197GWAS690173_Hmonounsaturated fatty acids; 16:1, 18:1 measurement QTL GWAS690173 (human)2e-76monounsaturated fatty acids; 16:1, 18:1 measurement81996126219961263Human
407000237GWAS649213_Hcoronary artery disease QTL GWAS649213 (human)2e-08coronary artery disease81996334219963343Human
406924462GWAS573438_Hserum metabolite measurement QTL GWAS573438 (human)3e-17serum metabolite measurement81996698119966982Human
406924465GWAS573441_Hserum metabolite measurement QTL GWAS573441 (human)5e-14serum metabolite measurement81996202519962026Human
406924464GWAS573440_Hserum metabolite measurement QTL GWAS573440 (human)3e-14phosphatidylcholine measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996698119966982Human
407151797GWAS800773_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS800773 (human)3e-13triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407000240GWAS649216_Hcoronary artery disease QTL GWAS649216 (human)0.000001coronary artery disease81996709319967094Human
407000241GWAS649217_Hcoronary artery disease QTL GWAS649217 (human)5e-09level of Triacylglycerol (53:3) in blood serum81996715619967157Human
406924468GWAS573444_Hserum metabolite measurement QTL GWAS573444 (human)1e-14free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407184575GWAS833551_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS833551 (human)2e-181very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996221319962214Human
407184574GWAS833550_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS833550 (human)3e-25very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81994557319945574Human
407078078GWAS727054_Hhigh density lipoprotein cholesterol measurement QTL GWAS727054 (human)9e-139high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407198907GWAS847883_Hhigh density lipoprotein cholesterol measurement QTL GWAS847883 (human)2e-102high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407198906GWAS847882_Hhigh density lipoprotein cholesterol measurement QTL GWAS847882 (human)2e-20free cholesterol measurement, chylomicron measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407035069GWAS684045_Hphospholipids in large VLDL measurement QTL GWAS684045 (human)8e-150phospholipids in large VLDL measurementblood very low density lipoprotein phospholipid level (CMO:0001571)81996221319962214Human
407266629GWAS915605_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS915605 (human)2e-137triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996292219962923Human
407192898GWAS841874_Hdiacylglycerol 36:2 measurement QTL GWAS841874 (human)2e-11milk diacylglycerol amount (VT:0010385)81996529919965300Human
406920525GWAS569501_Holeoyl-linoleoyl-glycerol (18:1/18:2) [1] measurement QTL GWAS569501 (human)3e-14oleoyl-linoleoyl-glycerol (18:1/18:2) [1] measurement81995985019959851Human
407041356GWAS690332_Htriglycerides in medium VLDL measurement QTL GWAS690332 (human)1e-135triglycerides in medium VLDL measurementblood very low density lipoprotein triglyceride level (CMO:0002688)81996221319962214Human
407008595GWAS657571_Hcholesterol efflux capacity measurement QTL GWAS657571 (human)8e-10cholesterol efflux capacity measurement81996427119964272Human
407080279GWAS729255_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS729255 (human)3e-225alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
406920533GWAS569509_Holeoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement QTL GWAS569509 (human)2e-14oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement81995985019959851Human
407086422GWAS735398_Htriglyceride measurement QTL GWAS735398 (human)0.000002lipoprotein-associated phospholipase A(2) measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407323985GWAS972961_Htriglyceride measurement QTL GWAS972961 (human)6e-166triglyceride measurementblood triglyceride level (CMO:0000118)81995601819956019Human
407072089GWAS721065_Hapolipoprotein A 1 measurement QTL GWAS721065 (human)1e-72apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81996715619967157Human
407264603GWAS913579_Haortic stenosis, aortic valve calcification QTL GWAS913579 (human)7e-09aortic stenosis, aortic valve calcification81996529919965300Human
407080302GWAS729278_Hwaist-hip ratio QTL GWAS729278 (human)5e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)81996715619967157Human
407328119GWAS977095_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS977095 (human)4e-24triglyceride measurementblood triglyceride level (CMO:0000118)81994557319945574Human
407084403GWAS733379_Hphospholipids:total lipids ratio QTL GWAS733379 (human)1e-112phospholipids:total lipids ratio81996126219961263Human
407278965GWAS927941_Htriglyceride measurement QTL GWAS927941 (human)3e-195triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407324020GWAS972996_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS972996 (human)2e-51triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
406926711GWAS575687_Hserum metabolite measurement QTL GWAS575687 (human)2e-10serum metabolite measurement81996202519962026Human
407346553GWAS995529_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS995529 (human)1e-55lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407346552GWAS995528_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS995528 (human)2e-10lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407328120GWAS977096_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS977096 (human)2e-162total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407164161GWAS813137_Hdiacylglycerol 34:2 measurement QTL GWAS813137 (human)2e-26milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996292219962923Human
407178498GWAS827474_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS827474 (human)3e-19very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81995872719958728Human
407037189GWAS686165_Htriglycerides in small VLDL measurement QTL GWAS686165 (human)8e-174triglycerides in small VLDL measurementblood very low density lipoprotein triglyceride level (CMO:0002688)81996340519963406Human
407164163GWAS813139_Hdiacylglycerol 34:2 measurement QTL GWAS813139 (human)3e-24milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996342219963423Human
407315712GWAS964688_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS964688 (human)1e-08low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)81996698119966982Human
407080203GWAS729179_H1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement QTL GWAS729179 (human)7e-101-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement81995834119958342Human
407041300GWAS690276_Hlevel of Triacylglycerol (51:3) in blood serum QTL GWAS690276 (human)3e-08level of Triacylglycerol (51:3) in blood serum81996715619967157Human
407166244GWAS815220_Htriglyceride measurement QTL GWAS815220 (human)5e-28triglyceride measurementblood triglyceride level (CMO:0000118)81996340519963406Human
407043370GWAS692346_Hsexual dimorphism measurement QTL GWAS692346 (human)2e-20sexual dimorphism measurement81994648519946486Human
407325998GWAS974974_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS974974 (human)2e-190low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81996221319962214Human
407325997GWAS974973_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS974973 (human)8e-20low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407186728GWAS835704_Hsphingomyelin measurement QTL GWAS835704 (human)3e-12sphingomyelin measurement81996529919965300Human
407186730GWAS835706_Hsphingomyelin measurement QTL GWAS835706 (human)2e-13diacylglycerol 36:3 measurement81996529919965300Human
406928691GWAS577667_Hapolipoprotein B measurement QTL GWAS577667 (human)1e-38apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81996698119966982Human
407026998GWAS675974_Htriglyceride measurement QTL GWAS675974 (human)5e-12triglyceride measurementblood triglyceride level (CMO:0000118)81996192819961929Human
407041335GWAS690311_Hvery low density lipoprotein cholesterol measurement QTL GWAS690311 (human)1e-146very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407051581GWAS700557_Hmetabolic syndrome QTL GWAS700557 (human)2e-12metabolic syndrome81995601819956019Human
407344440GWAS993416_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS993416 (human)3e-13triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994995119949952Human
406930880GWAS579856_Hserum metabolite measurement QTL GWAS579856 (human)1e-11serum metabolite measurement81996698119966982Human
407125447GWAS774423_Hsexual dimorphism measurement QTL GWAS774423 (human)5e-40sexual dimorphism measurement81995619119956192Human
407164352GWAS813328_Htriglyceride measurement QTL GWAS813328 (human)2e-10lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)81996698119966982Human
407164353GWAS813329_Htriglyceride measurement QTL GWAS813329 (human)3e-10phosphatidylcholine measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407152067GWAS801043_Hglycoprotein measurement QTL GWAS801043 (human)2e-16glycoprotein measurement81995872719958728Human
407035345GWAS684321_Hmonounsaturated fatty acids; 16:1, 18:1 measurement QTL GWAS684321 (human)6e-139monounsaturated fatty acids; 16:1, 18:1 measurement81996126219961263Human
407088596GWAS737572_Hcholesterol to total lipids in IDL percentage QTL GWAS737572 (human)9e-141cholesterol to total lipids in IDL percentage 81996126219961263Human
407242202GWAS891178_Hfree cholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS891178 (human)2e-81free cholesterol:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996221319962214Human
407072227GWAS721203_Hhigh density lipoprotein cholesterol measurement QTL GWAS721203 (human)1e-65high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407152102GWAS801078_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS801078 (human)4e-10lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995989019959891Human
407152109GWAS801085_Hhigh density lipoprotein cholesterol measurement QTL GWAS801085 (human)5e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995989019959891Human
407285226GWAS934202_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS934202 (human)6e-88triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996126219961263Human
407123447GWAS772423_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS772423 (human)2e-33triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996715619967157Human
407084541GWAS733517_Hcholesteryl esters to total lipids in medium LDL percentage QTL GWAS733517 (human)9e-82cholesteryl esters to total lipids in medium LDL percentage 81996292219962923Human
407098876GWAS747852_Htotal lipids in medium HDL measurement QTL GWAS747852 (human)4e-69total lipids in medium HDL measurement 81996715619967157Human
406928768GWAS577744_Htriglyceride measurement QTL GWAS577744 (human)2e-459triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407338373GWAS987349_Hmean corpuscular hemoglobin concentration QTL GWAS987349 (human)2e-15mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)81996653419966535Human
407133581GWAS782557_Htriglyceride:HDL cholesterol ratio QTL GWAS782557 (human)2e-100triglyceride:HDL cholesterol ratio81995601819956019Human
407133582GWAS782558_Htriglyceride:HDL cholesterol ratio QTL GWAS782558 (human)1e-70triglyceride:HDL cholesterol ratio81995677819956779Human
407188879GWAS837855_Hsphingomyelin measurement QTL GWAS837855 (human)6e-14sphingomyelin measurement81996529919965300Human
406945170GWAS594146_Hprotein measurement QTL GWAS594146 (human)1e-15protein measurement81996427119964272Human
407266717GWAS915693_Hhigh density lipoprotein particle size measurement QTL GWAS915693 (human)1e-17high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)81994557319945574Human
407031199GWAS680175_Hhigh density lipoprotein cholesterol measurement QTL GWAS680175 (human)6e-67high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407096738GWAS745714_Hfree cholesterol to total lipids in large VLDL percentage QTL GWAS745714 (human)1e-12phosphatidylcholine measurement81996698119966982Human
407090598GWAS739574_Hcholesterol esters in large HDL measurement QTL GWAS739574 (human)1e-141cholesterol esters in large HDL measurement81996715619967157Human
407115177GWAS764153_Htriglyceride measurement, alcohol consumption measurement QTL GWAS764153 (human)4e-200triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)81995804519958046Human
407078318GWAS727294_Htriglycerides to total lipids in small VLDL percentage QTL GWAS727294 (human)2e-97triglycerides to total lipids in small VLDL percentage 81996221319962214Human
407135659GWAS784635_Hhigh density lipoprotein cholesterol measurement QTL GWAS784635 (human)7e-94high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407088570GWAS737546_Hlinoleic acid measurement QTL GWAS737546 (human)7e-21linoleic acid measurementblood free fatty acids level (CMO:0000117)81995834119958342Human
407291324GWAS940300_Hhigh density lipoprotein cholesterol measurement QTL GWAS940300 (human)7e-220high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995601819956019Human
407133630GWAS782606_Htriglyceride:HDL cholesterol ratio QTL GWAS782606 (human)9e-09triglyceride:HDL cholesterol ratio81996192819961929Human
406931012GWAS579988_Hserum metabolite measurement QTL GWAS579988 (human)7e-10serum metabolite measurement81996202519962026Human
407184960GWAS833936_Hphosphatidylcholine measurement QTL GWAS833936 (human)5e-11phosphatidylcholine measurement81996529919965300Human
407182924GWAS831900_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS831900 (human)1e-125very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407244360GWAS893336_Hcholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS893336 (human)2e-139cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996126219961263Human
407279190GWAS928166_Hhigh density lipoprotein cholesterol measurement QTL GWAS928166 (human)8e-16high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407279184GWAS928160_Hhigh density lipoprotein cholesterol measurement QTL GWAS928160 (human)4e-166high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407184979GWAS833955_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS833955 (human)4e-171triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407184978GWAS833954_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS833954 (human)3e-22blood lipid amount (VT:0003949)blood lipid measurement (CMO:0000050)81994557319945574Human
407168605GWAS817581_Hcholesteryl ester 18:0 measurement QTL GWAS817581 (human)4e-10blood lipid amount (VT:0003949)81996221319962214Human
407309925GWAS958901_Htriglyceride measurement QTL GWAS958901 (human)2e-883triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407193185GWAS842161_Hdiacylglycerol 34:1 measurement QTL GWAS842161 (human)4e-10milk diacylglycerol amount (VT:0010385)81996529919965300Human
407166568GWAS815544_Hdiacylglycerol 44:7 measurement QTL GWAS815544 (human)1e-12sphingomyelin measurement81996221319962214Human
407236201GWAS885177_Hapolipoprotein A 1 measurement, apolipoprotein B measurement QTL GWAS885177 (human)1e-58apolipoprotein A 1 measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81996698119966982Human
407166570GWAS815546_Hdiacylglycerol 44:7 measurement QTL GWAS815546 (human)2e-10sphingomyelin measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407131766GWAS780742_Htriglyceride:HDL cholesterol ratio QTL GWAS780742 (human)5e-195triglyceride:HDL cholesterol ratio81995438619954387Human
407309951GWAS958927_Hchylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS958927 (human)1e-21chylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407168639GWAS817615_Hdiacylglycerol 36:2 measurement QTL GWAS817615 (human)1e-10milk diacylglycerol amount (VT:0010385)81995872719958728Human
406992510GWAS641486_Htriglyceride measurement QTL GWAS641486 (human)6e-40triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407090707GWAS739683_Htotal lipids in large HDL QTL GWAS739683 (human)3e-141total lipids in large HDL81996715619967157Human
407176724GWAS825700_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS825700 (human)2e-12lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407029271GWAS678247_Hcholesteryl ester measurement QTL GWAS678247 (human)3e-106blood lipid amount (VT:0003949)81996221319962214Human
407213593GWAS862569_Hhigh density lipoprotein cholesterol measurement QTL GWAS862569 (human)2e-77high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995422219954223Human
407125528GWAS774504_Hsexual dimorphism measurement QTL GWAS774504 (human)2e-69sexual dimorphism measurement81996613719966138Human
407268888GWAS917864_Htriglyceride measurement QTL GWAS917864 (human)1e-10triglyceride measurementblood triglyceride level (CMO:0000118)81994562619945627Human
407213594GWAS862570_Hhigh density lipoprotein cholesterol measurement QTL GWAS862570 (human)1e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995608319956084Human
407287334GWAS936310_Hhigh density lipoprotein cholesterol measurement QTL GWAS936310 (human)7e-1198high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996613719966138Human
407125536GWAS774512_Hsexual dimorphism measurement QTL GWAS774512 (human)1e-29sexual dimorphism measurement81995327619953277Human
407266848GWAS915824_Hsphingomyelin measurement QTL GWAS915824 (human)2e-13sphingomyelin measurement81996221319962214Human
407320111GWAS969087_Hvery low density lipoprotein cholesterol measurement QTL GWAS969087 (human)5e-27very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407094827GWAS743803_Hfree cholesterol to total lipids in large LDL percentage QTL GWAS743803 (human)1e-157free cholesterol to total lipids in large LDL percentage 81996126219961263Human
407197228GWAS846204_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS846204 (human)2e-118cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407094824GWAS743800_Hperipheral arterial disease QTL GWAS743800 (human)3e-09peripheral arterial disease81996170619961707Human
406922797GWAS571773_Htriglyceride measurement QTL GWAS571773 (human)4e-334triglyceride measurementblood triglyceride level (CMO:0000118)81995327619953277Human
407076399GWAS725375_Hwaist-hip ratio QTL GWAS725375 (human)2e-09waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)81996715619967157Human
407033391GWAS682367_Hhigh density lipoprotein cholesterol measurement QTL GWAS682367 (human)0.0000006high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
406922807GWAS571783_Htriglyceride measurement QTL GWAS571783 (human)7e-115triglyceride measurementblood triglyceride level (CMO:0000118)81995996519959966Human
407320112GWAS969088_Hvery low density lipoprotein cholesterol measurement QTL GWAS969088 (human)2e-149very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407150141GWAS799117_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS799117 (human)1e-19free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996289419962895Human
407309882GWAS958858_Hfree cholesterol measurement, chylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS958858 (human)4e-183free cholesterol measurement, chylomicron measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407098940GWAS747916_Hfree cholesterol to total lipids in medium HDL percentage QTL GWAS747916 (human)3e-95fatty acid measurementblood low density lipoprotein cholesterol level (CMO:0000053)81996126219961263Human
407183044GWAS832020_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS832020 (human)3e-43very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407092935GWAS741911_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS741911 (human)1e-16alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407316161GWAS965137_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS965137 (human)3e-48very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
406898376GWAS547352_Hhigh density lipoprotein cholesterol measurement QTL GWAS547352 (human)2e-25high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994912019949121Human
406898377GWAS547353_Hhigh density lipoprotein cholesterol measurement QTL GWAS547353 (human)1e-22high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994912019949121Human
406898378GWAS547354_Hhigh density lipoprotein cholesterol measurement QTL GWAS547354 (human)3e-96high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
406898379GWAS547355_Hhigh density lipoprotein cholesterol measurement QTL GWAS547355 (human)1e-18high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
406898380GWAS547356_Hhigh density lipoprotein cholesterol measurement QTL GWAS547356 (human)1e-10sphingomyelin measurementblood triglyceride level (CMO:0000118)81996192819961929Human
406898381GWAS547357_Hhigh density lipoprotein cholesterol measurement QTL GWAS547357 (human)2e-125high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996192819961929Human
406898385GWAS547361_Hhigh density lipoprotein cholesterol measurement QTL GWAS547361 (human)2e-111high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996698119966982Human
406898386GWAS547362_Hhigh density lipoprotein cholesterol measurement QTL GWAS547362 (human)1e-16triglyceride measurement, high density lipoprotein cholesterol measurementblood triglyceride level (CMO:0000118)81996698119966982Human
406898387GWAS547363_Hhigh density lipoprotein cholesterol measurement QTL GWAS547363 (human)1e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996698119966982Human
406898388GWAS547364_Hhigh density lipoprotein cholesterol measurement QTL GWAS547364 (human)1e-139high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996698119966982Human
406898389GWAS547365_Hhigh density lipoprotein cholesterol measurement QTL GWAS547365 (human)1e-110high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
406898390GWAS547366_Hhigh density lipoprotein cholesterol measurement QTL GWAS547366 (human)1e-16high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
406898391GWAS547367_Hhigh density lipoprotein cholesterol measurement QTL GWAS547367 (human)1e-10blood pressure trait (VT:0000183)blood pressure measurement (CMO:0000003)81996715619967157Human
407164636GWAS813612_Htriglyceride measurement QTL GWAS813612 (human)4e-12phosphatidylcholine measurementblood triglyceride level (CMO:0000118)81996192819961929Human
406898392GWAS547368_Hhigh density lipoprotein cholesterol measurement QTL GWAS547368 (human)3e-139high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407340766GWAS989742_Hcholesteryl ester measurement, chylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS989742 (human)6e-188blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407164637GWAS813613_Htriglyceride measurement QTL GWAS813613 (human)2e-13triglyceride measurementblood triglyceride level (CMO:0000118)81996698119966982Human
407340765GWAS989741_Hcholesteryl ester measurement, chylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS989741 (human)5e-22blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407183071GWAS832047_Htriglyceride measurement QTL GWAS832047 (human)3e-27triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407164638GWAS813614_Htriglyceride measurement QTL GWAS813614 (human)2e-13triglyceride measurementblood triglyceride level (CMO:0000118)81996715619967157Human
407183070GWAS832046_Htriglyceride measurement QTL GWAS832046 (human)9e-27triglyceride measurementblood triglyceride level (CMO:0000118)81995942319959424Human
407340764GWAS989740_Hdocosahexaenoic acid measurement QTL GWAS989740 (human)2e-08fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)81996126219961263Human
407164633GWAS813609_Htriglyceride measurement QTL GWAS813609 (human)8e-11triglyceride measurementblood triglyceride level (CMO:0000118)81995872719958728Human
407164634GWAS813610_Htriglyceride measurement QTL GWAS813610 (human)1e-10phosphatidylcholine measurementblood triglyceride level (CMO:0000118)81995942319959424Human
407164635GWAS813611_Htriglyceride measurement QTL GWAS813611 (human)3e-11triglyceride measurementblood triglyceride level (CMO:0000118)81996156619961567Human
407312099GWAS961075_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS961075 (human)6e-10free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994983019949831Human
407029476GWAS678452_Hlinoleic acid measurement QTL GWAS678452 (human)8e-10linoleic acid measurementblood free fatty acids level (CMO:0000117)81996292219962923Human
407195373GWAS844349_Htriglyceride measurement QTL GWAS844349 (human)3e-26sphingomyelin measurementblood triglyceride level (CMO:0000118)81996292219962923Human
407082731GWAS731707_Htriglyceride measurement QTL GWAS731707 (human)1e-154triglyceride measurementblood triglyceride level (CMO:0000118)81996705219967053Human
407088879GWAS737855_Hcoronary artery disease QTL GWAS737855 (human)6e-12coronary artery disease81995566919955670Human
407088878GWAS737854_Hcoronary artery disease QTL GWAS737854 (human)8e-11coronary artery disease81994301819943019Human
407240426GWAS889402_Htriglyceride measurement, intermediate density lipoprotein measurement QTL GWAS889402 (human)4e-19triglyceride measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81994557319945574Human
407125744GWAS774720_Hsexual dimorphism measurement QTL GWAS774720 (human)2e-16sexual dimorphism measurement81995677819956779Human
406927093GWAS576069_Hserum metabolite measurement QTL GWAS576069 (human)5e-10serum metabolite measurement81996698119966982Human
407291635GWAS940611_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS940611 (human)7e-132very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407152383GWAS801359_Hglycoprotein measurement QTL GWAS801359 (human)2e-15glycoprotein measurement81996289419962895Human
407150331GWAS799307_Hisoleucine measurement QTL GWAS799307 (human)4e-09isoleucine measurementblood amino acid measurement (CMO:0003730)81996289419962895Human
406926977GWAS575953_Hhigh density lipoprotein cholesterol measurement QTL GWAS575953 (human)8e-326high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995327619953277Human
407168644GWAS817620_Hdiacylglycerol 36:2 measurement QTL GWAS817620 (human)1e-11milk diacylglycerol amount (VT:0010385)81996221319962214Human
407168645GWAS817621_Hdiacylglycerol 36:2 measurement QTL GWAS817621 (human)3e-13milk diacylglycerol amount (VT:0010385)81996698119966982Human
407168646GWAS817622_Hdiacylglycerol 36:2 measurement QTL GWAS817622 (human)4e-13milk diacylglycerol amount (VT:0010385)81996715619967157Human
407168640GWAS817616_Hdiacylglycerol 36:2 measurement QTL GWAS817616 (human)2e-10milk diacylglycerol amount (VT:0010385)81995942319959424Human
407168641GWAS817617_Hdiacylglycerol 36:2 measurement QTL GWAS817617 (human)1e-10milk diacylglycerol amount (VT:0010385)81996156619961567Human
407266947GWAS915923_Hhigh density lipoprotein particle size measurement QTL GWAS915923 (human)1e-74high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)81996342219963423Human
407168643GWAS817619_Hdiacylglycerol 36:2 measurement QTL GWAS817619 (human)2e-11milk diacylglycerol amount (VT:0010385)blood triglyceride level (CMO:0000118)81996192819961929Human
407309952GWAS958928_Hchylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS958928 (human)2e-188chylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407285388GWAS934364_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS934364 (human)4e-25triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407285389GWAS934365_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS934365 (human)9e-174triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407037580GWAS686556_Hphospholipids in HDL measurement QTL GWAS686556 (human)1e-71phospholipids in HDL measurement 81996715619967157Human
407080595GWAS729571_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS729571 (human)3e-13phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407025299GWAS674275_Htriglycerides to total lipids in small LDL percentage QTL GWAS674275 (human)1e-132triglycerides to total lipids in small LDL percentage 81996126219961263Human
407322262GWAS971238_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS971238 (human)2e-170very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407056018GWAS704994_Htotal lipids in very small VLDL measurement QTL GWAS704994 (human)1e-36total lipids in very small VLDL measurement81996698119966982Human
407322261GWAS971237_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS971237 (human)5e-26very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407119506GWAS768482_Hsexual dimorphism measurement QTL GWAS768482 (human)5e-16sexual dimorphism measurement81996523019965231Human
407088794GWAS737770_Hfree cholesterol to total lipids in medium VLDL percentage QTL GWAS737770 (human)9e-75free cholesterol to total lipids in medium VLDL percentage 81996126219961263Human
407330459GWAS979435_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS979435 (human)2e-225triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407330458GWAS979434_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS979434 (human)6e-32triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407316121GWAS965097_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS965097 (human)6e-70low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81996221319962214Human
406988444GWAS637420_Hreticulocyte count QTL GWAS637420 (human)6e-14reticulocyte counttotal reticulocyte count (CMO:0003020)81996698119966982Human
406949541GWAS598517_Hlipid measurement QTL GWAS598517 (human)1e-11lipid measurementblood lipid measurement (CMO:0000050)81996289419962895Human
406949540GWAS598516_Hlipid measurement QTL GWAS598516 (human)1e-17lipid measurementblood lipid measurement (CMO:0000050)81996289419962895Human
406949543GWAS598519_Hlipid measurement QTL GWAS598519 (human)2e-17lipid measurementblood lipid measurement (CMO:0000050)81996705219967053Human
406949542GWAS598518_Hlipid measurement QTL GWAS598518 (human)1e-14lipid measurementblood lipid measurement (CMO:0000050)81996289419962895Human
407180973GWAS829949_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS829949 (human)8e-27free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407279278GWAS928254_Hhigh density lipoprotein cholesterol measurement QTL GWAS928254 (human)4e-105high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
406949544GWAS598520_Hlipid measurement QTL GWAS598520 (human)1e-20lipid measurementblood lipid measurement (CMO:0000050)81996705219967053Human
407242412GWAS891388_Hcholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS891388 (human)3e-29blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407101096GWAS750072_Hcholesterol to total lipids in medium HDL percentage QTL GWAS750072 (human)3e-172cholesterol to total lipids in medium HDL percentage 81996126219961263Human
407180974GWAS829950_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS829950 (human)8e-180free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
406994605GWAS643581_Hhigh density lipoprotein cholesterol measurement QTL GWAS643581 (human)2e-115high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407078576GWAS727552_Hphospholipids:total lipids ratio QTL GWAS727552 (human)2e-130phospholipids:total lipids ratio81996126219961263Human
407082679GWAS731655_Hhigh density lipoprotein cholesterol measurement QTL GWAS731655 (human)2e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407025334GWAS674310_Htriglycerides to total lipids in very small VLDL percentage QTL GWAS674310 (human)2e-117triglycerides to total lipids in very small VLDL percentage 81996126219961263Human
406929077GWAS578053_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS578053 (human)1e-30sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996568119965682Human
407092918GWAS741894_Htriglycerides to total lipids in large LDL percentage QTL GWAS741894 (human)3e-72triglycerides to total lipids in large LDL percentage 81996126219961263Human
407088825GWAS737801_Htriglycerides in IDL measurement QTL GWAS737801 (human)1e-66triglycerides in IDL measurementblood lipoprotein triglyceride level (CMO:0002685)81996715619967157Human
407131833GWAS780809_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS780809 (human)3e-51cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407152314GWAS801290_Hfree cholesterol measurement, chylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS801290 (human)8e-15free cholesterol measurement, chylomicron measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407150407GWAS799383_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS799383 (human)5e-20free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996289419962895Human
407256896GWAS905872_Hhigh density lipoprotein cholesterol measurement QTL GWAS905872 (human)3e-66high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996613719966138Human
407088971GWAS737947_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS737947 (human)6e-34cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996705219967053Human
407041864GWAS690840_Htriglycerides in large LDL measurement QTL GWAS690840 (human)2e-49triglycerides in large LDL measurement 81996715619967157Human
406984520GWAS633496_Hhigh density lipoprotein cholesterol measurement QTL GWAS633496 (human)5e-40high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407215950GWAS864926_Hlow density lipoprotein particle size measurement QTL GWAS864926 (human)8e-38low density lipoprotein particle size measurementblood low density lipoprotein particle diameter (CMO:0002693)81996126219961263Human
407082830GWAS731806_Hlipid measurement QTL GWAS731806 (human)4e-27lipid measurementblood lipid measurement (CMO:0000050)81996715619967157Human
407058260GWAS707236_Hfatty acid change measurement QTL GWAS707236 (human)3e-19fatty acid change measurement81996292219962923Human
407025502GWAS674478_Hfree cholesterol to total lipids in small LDL percentage QTL GWAS674478 (human)2e-143free cholesterol to total lipids in small LDL percentage 81996126219961263Human
407080799GWAS729775_Hphospholipids in large HDL measurement QTL GWAS729775 (human)3e-148phospholipids in large HDL measurementblood high density lipoprotein phospholipid level (CMO:0001565)81996715619967157Human
407023456GWAS672432_Hfree cholesterol to total lipids in very large VLDL percentage QTL GWAS672432 (human)7e-26free cholesterol to total lipids in very large VLDL percentage 81996126219961263Human
407308143GWAS957119_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS957119 (human)6e-185chylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407308142GWAS957118_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS957118 (human)2e-21chylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
406927214GWAS576190_Hhigh density lipoprotein cholesterol measurement QTL GWAS576190 (human)1e-79high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995996519959966Human
407129976GWAS778952_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS778952 (human)3e-66total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407332608GWAS981584_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS981584 (human)9e-126very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996715619967157Human
407258894GWAS907870_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS907870 (human)5e-252triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407090955GWAS739931_Hfree cholesterol in large HDL measurement QTL GWAS739931 (human)3e-144free cholesterol in large HDL measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
406929160GWAS578136_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS578136 (human)2e-112sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996698119966982Human
407023368GWAS672344_Hfree cholesterol in medium HDL measurement QTL GWAS672344 (human)2e-81free cholesterol in medium HDL measurement 81996715619967157Human
407258893GWAS907869_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS907869 (human)7e-32triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407256843GWAS905819_Hfatty acid measurement QTL GWAS905819 (human)1e-179fatty acid measurement81996126219961263Human
406927123GWAS576099_Hserum metabolite measurement QTL GWAS576099 (human)2e-11milk diacylglycerol amount (VT:0010385)81996698119966982Human
407275285GWAS924261_Hhigh density lipoprotein cholesterol measurement QTL GWAS924261 (human)8e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407035669GWAS684645_Hcholesteryl ester measurement QTL GWAS684645 (human)9e-113blood lipid amount (VT:0003949)81996342219963423Human
407314207GWAS963183_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS963183 (human)4e-185very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407314206GWAS963182_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS963182 (human)6e-25free cholesterol measurement, very low density lipoprotein cholesterol measurementblood cholesterol level (CMO:0002280)81994557319945574Human
407041819GWAS690795_Hfree cholesterol in chylomicrons and extremely large VLDL measurement QTL GWAS690795 (human)5e-143free cholesterol in chylomicrons and extremely large VLDL measurement 81996126219961263Human
407308061GWAS957037_Htriglyceride measurement QTL GWAS957037 (human)4e-1504triglyceride measurementblood triglyceride level (CMO:0000118)81996340519963406Human
407283482GWAS932458_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS932458 (human)2e-17very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood lipid measurement (CMO:0000050)81994557319945574Human
407283483GWAS932459_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS932459 (human)5e-117free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407111449GWAS760425_Hapolipoprotein A 1 measurement QTL GWAS760425 (human)4e-71apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81996715619967157Human
407334681GWAS983657_Htriglyceride measurement QTL GWAS983657 (human)6e-731triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407324440GWAS973416_Htriglyceride measurement QTL GWAS973416 (human)3e-82triglyceride measurementblood triglyceride level (CMO:0000118)81994819719948198Human
407099164GWAS748140_Htriglycerides to total lipids in medium LDL percentage QTL GWAS748140 (human)9e-67triglycerides to total lipids in medium LDL percentage 81996126219961263Human
407070498GWAS719474_Htriglyceride measurement, alcohol drinking QTL GWAS719474 (human)1e-215triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)81995804519958046Human
407176999GWAS825975_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS825975 (human)3e-18very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81995872719958728Human
407039777GWAS688753_Htriglycerides in chylomicrons and extremely large VLDL measurement QTL GWAS688753 (human)1e-108triglycerides in chylomicrons and extremely large VLDL measurement 81996126219961263Human
407344931GWAS993907_Hvery low density lipoprotein particle size measurement QTL GWAS993907 (human)5e-186very low density lipoprotein particle size measurementblood very low density lipoprotein particle diameter (CMO:0002694)81996221319962214Human
407088935GWAS737911_Htriglycerides to total lipids in medium HDL percentage QTL GWAS737911 (human)1e-192triglycerides to total lipids in medium HDL percentage 81996292219962923Human
407084838GWAS733814_Hcholesterol to total lipids in medium LDL percentage QTL GWAS733814 (human)4e-18triglyceride:HDL cholesterol ratio81996715619967157Human
407326511GWAS975487_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS975487 (human)2e-25triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407383841GWAS1032817_Hobsolete_red blood cell distribution width QTL GWAS1032817 (human)9e-60obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)81996292219962923Human
407154477GWAS803453_Hhigh density lipoprotein cholesterol measurement QTL GWAS803453 (human)4e-260high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996391419963915Human
407187242GWAS836218_Hsphingomyelin measurement QTL GWAS836218 (human)6e-11sphingomyelin measurement81996529919965300Human
407246644GWAS895620_Hapolipoprotein A 1 measurement QTL GWAS895620 (human)6e-39apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81995422219954223Human
407152435GWAS801411_Hapolipoprotein B measurement QTL GWAS801411 (human)3e-12apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)81995872719958728Human
407037752GWAS686728_Hlevel of Diacylglycerol (18:1_18:2) in blood serum QTL GWAS686728 (human)8e-09level of Diacylglycerol (18:1_18:2) in blood serum81995601819956019Human
407070521GWAS719497_Htriglyceride measurement, alcohol drinking QTL GWAS719497 (human)9e-203triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)81995804519958046Human
407320380GWAS969356_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS969356 (human)4e-09free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996126219961263Human
407269181GWAS918157_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS918157 (human)3e-86phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
406931258GWAS580234_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS580234 (human)7e-126sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407236410GWAS885386_Hdocosahexaenoic acid measurement, fatty acid measurement QTL GWAS885386 (human)2e-44fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)81996221319962214Human
407320519GWAS969495_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS969495 (human)2e-169very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407328717GWAS977693_Htriglyceride measurement QTL GWAS977693 (human)4e-186triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407152584GWAS801560_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS801560 (human)4e-14chylomicron measurement, triglyceride measurement, very low density lipoprotein cholesterol measurementblood triglyceride level (CMO:0000118)81996705219967053Human
407089105GWAS738081_Hisoleucine measurement QTL GWAS738081 (human)2e-21isoleucine measurementblood amino acid measurement (CMO:0003730)81996698119966982Human
407093205GWAS742181_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS742181 (human)6e-299alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407308255GWAS957231_Hhigh density lipoprotein cholesterol measurement QTL GWAS957231 (human)3e-27high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81994557319945574Human
407332827GWAS981803_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS981803 (human)6e-182triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996221319962214Human
407246809GWAS895785_Hapolipoprotein A 1 measurement QTL GWAS895785 (human)1e-69apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)81994819719948198Human
407080929GWAS729905_Hcholesterol to total lipids in small VLDL percentage QTL GWAS729905 (human)3e-80cholesterol to total lipids in small VLDL percentage 81996340519963406Human
407152614GWAS801590_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS801590 (human)5e-15free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996705219967053Human
407287778GWAS936754_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS936754 (human)6e-15very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407287779GWAS936755_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS936755 (human)4e-142very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407033828GWAS682804_Hcholesterol in large VLDL measurement QTL GWAS682804 (human)4e-129cholesterol in large VLDL measurement 81996221319962214Human
407308256GWAS957232_Hhigh density lipoprotein cholesterol measurement QTL GWAS957232 (human)7e-146high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407023594GWAS672570_Hcholesteryl ester measurement QTL GWAS672570 (human)7e-111blood lipid amount (VT:0003949)81996715619967157Human
406888428GWAS537404_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS537404 (human)7e-12sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995758719957588Human
406994925GWAS643901_Htriglyceride measurement QTL GWAS643901 (human)1e-196triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407238642GWAS887618_Hlipid measurement, intermediate density lipoprotein measurement QTL GWAS887618 (human)3e-16lipid measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)81996126219961263Human
407166970GWAS815946_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS815946 (human)5e-21very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407166971GWAS815947_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS815947 (human)2e-108free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996342219963423Human
407041931GWAS690907_Hconcentration of chylomicrons and extremely large VLDL particles measurement QTL GWAS690907 (human)3e-138concentration of chylomicrons and extremely large VLDL particles measurement 81996126219961263Human
407039880GWAS688856_Htotal lipids in VLDL measurement QTL GWAS688856 (human)1e-118total lipids in VLDL measurement 81996221319962214Human
407023502GWAS672478_Htriglycerides in medium HDL measurement QTL GWAS672478 (human)4e-86triglycerides in medium HDL measurement 81996292219962923Human
407338903GWAS987879_Htriglyceride measurement QTL GWAS987879 (human)3e-36triglyceride measurementblood triglyceride level (CMO:0000118)81995422219954223Human
407193495GWAS842471_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS842471 (human)5e-199low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81996126219961263Human
407193494GWAS842470_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS842470 (human)1e-29low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)81994557319945574Human
407136151GWAS785127_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS785127 (human)1e-48very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996715619967157Human
407330705GWAS979681_Htriglyceride measurement QTL GWAS979681 (human)7e-15triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407310238GWAS959214_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS959214 (human)7e-150triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407310237GWAS959213_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS959213 (human)2e-22triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)81994557319945574Human
407080856GWAS729832_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS729832 (human)2e-79alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81995804519958046Human
407111576GWAS760552_Hhigh density lipoprotein cholesterol measurement QTL GWAS760552 (human)2e-60high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
407087006GWAS735982_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS735982 (human)6e-97total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996715619967157Human
406966185GWAS615161_Hhigh density lipoprotein cholesterol measurement QTL GWAS615161 (human)2e-14sphingomyelin measurementblood high density lipoprotein cholesterol level (CMO:0000052)81996221319962214Human
407277487GWAS926463_Htriglyceride measurement QTL GWAS926463 (human)9e-97triglyceride measurementblood triglyceride level (CMO:0000118)81995804519958046Human
407330734GWAS979710_Htriglyceride measurement QTL GWAS979710 (human)7e-26triglyceride measurementblood triglyceride level (CMO:0000118)81996024819960249Human
406966184GWAS615160_Htriglyceride measurement QTL GWAS615160 (human)3e-10triglyceride measurementblood triglyceride level (CMO:0000118)81996221319962214Human
407080877GWAS729853_Hfree cholesterol to total lipids in IDL percentage QTL GWAS729853 (human)8e-66free cholesterol to total lipids in IDL percentage 81996221319962214Human
406931377GWAS580353_Hserum metabolite measurement QTL GWAS580353 (human)8e-12serum metabolite measurement81996202519962026Human
407285687GWAS934663_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS934663 (human)3e-62very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81996126219961263Human
407105462GWAS754438_Hplatelet component distribution width QTL GWAS754438 (human)6e-16platelet component distribution widthplatelet distribution width (CMO:0001350)81995601819956019Human
407035828GWAS684804_Hfree cholesterol in very large VLDL measurement QTL GWAS684804 (human)4e-141free cholesterol in very large VLDL measurement 81996221319962214Human
406931389GWAS580365_Hserum metabolite measurement QTL GWAS580365 (human)1e-14serum metabolite measurement81996698119966982Human
407140282GWAS789258_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS789258 (human)2e-12very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)81995985019959851Human

Markers in Region
RH36522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,823,351 - 19,823,544UniSTSGRCh37
Build 36819,867,631 - 19,867,824RGDNCBI36
Celera818,786,439 - 18,786,632RGD
Cytogenetic Map8p22UniSTS
HuRef818,363,583 - 18,363,776UniSTS
GeneMap99-GB4 RH Map864.82UniSTS
RH70259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,824,440 - 19,824,604UniSTSGRCh37
Build 36819,868,720 - 19,868,884RGDNCBI36
Celera818,787,528 - 18,787,692RGD
Cytogenetic Map8p22UniSTS
HuRef818,364,672 - 18,364,836UniSTS
GeneMap99-GB4 RH Map881.83UniSTS
D8S1948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,822,892 - 19,823,002UniSTSGRCh37
Build 36819,867,172 - 19,867,282RGDNCBI36
Celera818,785,980 - 18,786,090RGD
Cytogenetic Map8p22UniSTS
HuRef818,363,124 - 18,363,234UniSTS
Whitehead-YAC Contig Map8 UniSTS
SHGC-85707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,820,064 - 19,820,336UniSTSGRCh37
Build 36819,864,344 - 19,864,616RGDNCBI36
Celera818,783,151 - 18,783,423RGD
Cytogenetic Map8p22UniSTS
HuRef818,360,296 - 18,360,568UniSTS
TNG Radiation Hybrid Map810306.0UniSTS
GDB:177387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,815,450 - 19,815,576UniSTSGRCh37
Build 36819,859,730 - 19,859,856RGDNCBI36
Celera818,778,546 - 18,778,668RGD
Cytogenetic Map8p22UniSTS
HuRef818,355,687 - 18,355,809UniSTS
GDB:182360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,818,503 - 19,819,658UniSTSGRCh37
Build 36819,862,783 - 19,863,938RGDNCBI36
Celera818,781,592 - 18,782,745RGD
Cytogenetic Map8p22UniSTS
HuRef818,358,737 - 18,359,890UniSTS
GDB:189516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,819,607 - 19,819,747UniSTSGRCh37
Build 36819,863,887 - 19,864,027RGDNCBI36
Celera818,782,694 - 18,782,834RGD
Cytogenetic Map8p22UniSTS
HuRef818,359,839 - 18,359,979UniSTS
GDB:191079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,819,267 - 19,819,754UniSTSGRCh37
Build 36819,863,547 - 19,864,034RGDNCBI36
Celera818,782,354 - 18,782,841RGD
Cytogenetic Map8p22UniSTS
HuRef818,359,499 - 18,359,986UniSTS
GDB:212664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,815,452 - 19,815,572UniSTSGRCh37
Build 36819,859,732 - 19,859,852RGDNCBI36
Celera818,778,548 - 18,778,664RGD
Cytogenetic Map8p22UniSTS
HuRef818,355,689 - 18,355,805UniSTS
GDB:285016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,815,031 - 19,815,349UniSTSGRCh37
Build 36819,859,311 - 19,859,629RGDNCBI36
Celera818,778,127 - 18,778,445RGD
Cytogenetic Map8p22UniSTS
HuRef818,355,268 - 18,355,586UniSTS
GDB:623664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,796,245 - 19,796,808UniSTSGRCh37
Build 36819,840,525 - 19,841,088RGDNCBI36
Celera818,759,341 - 18,759,904RGD
Cytogenetic Map8p22UniSTS
HuRef818,336,483 - 18,337,046UniSTS
STS-M15856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,824,501 - 19,824,667UniSTSGRCh37
Build 36819,868,781 - 19,868,947RGDNCBI36
Celera818,787,589 - 18,787,755RGD
Cytogenetic Map8p22UniSTS
HuRef818,364,733 - 18,364,899UniSTS
GeneMap99-GB4 RH Map882.06UniSTS
LPL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,811,639 - 19,811,799UniSTSGRCh37
Build 36819,855,919 - 19,856,079RGDNCBI36
Celera818,774,735 - 18,774,895RGD
HuRef818,351,876 - 18,352,036UniSTS
LPL_4009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,823,980 - 19,824,786UniSTSGRCh37
Build 36819,868,260 - 19,869,066RGDNCBI36
Celera818,787,068 - 18,787,874RGD
HuRef818,364,212 - 18,365,018UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2353 2788 2232 4939 1705 2254 4 610 1455 449 2254 6709 5979 43 3709 1 814 1692 1538 168 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC100802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF050163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA485210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ083390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU557518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY448281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S58235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z46943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000519773   ⟹   ENSP00000431028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,939,256 - 19,948,303 (+)Ensembl
Ensembl Acc Id: ENST00000520959   ⟹   ENSP00000428496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,901,717 - 19,954,151 (+)Ensembl
Ensembl Acc Id: ENST00000521994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,939,256 - 19,951,828 (+)Ensembl
Ensembl Acc Id: ENST00000522701   ⟹   ENSP00000428557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,938,933 - 19,951,836 (+)Ensembl
Ensembl Acc Id: ENST00000523696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,939,372 - 19,948,485 (+)Ensembl
Ensembl Acc Id: ENST00000524029   ⟹   ENSP00000428237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,938,870 - 19,951,908 (+)Ensembl
Ensembl Acc Id: ENST00000650287   ⟹   ENSP00000497642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,939,253 - 19,967,259 (+)Ensembl
Ensembl Acc Id: ENST00000650478   ⟹   ENSP00000497560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl819,956,005 - 19,967,196 (+)Ensembl
RefSeq Acc Id: NM_000237   ⟹   NP_000228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,939,253 - 19,967,259 (+)NCBI
GRCh37819,796,582 - 19,824,770 (+)ENTREZGENE
Build 36819,840,862 - 19,869,050 (+)NCBI Archive
HuRef818,336,820 - 18,365,002 (+)ENTREZGENE
CHM1_1819,998,390 - 20,026,574 (+)NCBI
T2T-CHM13v2.0820,204,296 - 20,232,297 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000228   ⟸   NM_000237
- Peptide Label: precursor
- UniProtKB: Q16283 (UniProtKB/Swiss-Prot),   Q16282 (UniProtKB/Swiss-Prot),   B2R5T9 (UniProtKB/Swiss-Prot),   Q96FC4 (UniProtKB/Swiss-Prot),   P06858 (UniProtKB/Swiss-Prot),   A0A1B1RVA9 (UniProtKB/TrEMBL),   A8K2M5 (UniProtKB/TrEMBL),   Q53HW6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000431028   ⟸   ENST00000519773
Ensembl Acc Id: ENSP00000497560   ⟸   ENST00000650478
Ensembl Acc Id: ENSP00000497642   ⟸   ENST00000650287
Ensembl Acc Id: ENSP00000428496   ⟸   ENST00000520959
Ensembl Acc Id: ENSP00000428557   ⟸   ENST00000522701
Ensembl Acc Id: ENSP00000428237   ⟸   ENST00000524029
Protein Domains
Lipase   PLAT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06858-F1-model_v2 AlphaFold P06858 1-475 view protein structure

Promoters
RGD ID:6806844
Promoter ID:HG_KWN:60843
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:OTTHUMT00000089113
Position:
Human AssemblyChrPosition (strand)Source
Build 36819,840,894 - 19,841,394 (+)MPROMDB
RGD ID:6852106
Promoter ID:EP73859
Type:multiple initiation site
Name:HS_LPL
Description:Lipoprotein lipase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36819,841,047 - 19,841,107EPD
RGD ID:7212747
Promoter ID:EPDNEW_H12119
Type:initiation region
Name:LPL_1
Description:lipoprotein lipase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,939,253 - 19,939,313EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6677 AgrOrtholog
COSMIC LPL COSMIC
Ensembl Genes ENSG00000175445 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000519773.1 UniProtKB/TrEMBL
  ENST00000520959.5 UniProtKB/TrEMBL
  ENST00000522701.5 UniProtKB/TrEMBL
  ENST00000524029.5 UniProtKB/TrEMBL
  ENST00000650287 ENTREZGENE
  ENST00000650287.1 UniProtKB/Swiss-Prot
  ENST00000650478.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175445 GTEx
HGNC ID HGNC:6677 ENTREZGENE
Human Proteome Map LPL Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase/vitellogenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase_LIPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipo_Lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAG_lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4023 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4023 ENTREZGENE
OMIM 609708 OMIM
PANTHER PTHR11610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11610:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB LPL RGD, PharmGKB
PIRSF Lipoprotein_lipase_LIPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS LIPOLIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAGLIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LIPASE_SER UniProtKB/Swiss-Prot
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B1RVA9 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IT60_HUMAN UniProtKB/TrEMBL
  A0A6B9JFD6_HUMAN UniProtKB/TrEMBL
  A8K2M5 ENTREZGENE, UniProtKB/TrEMBL
  B2R5T9 ENTREZGENE
  E5RHN7_HUMAN UniProtKB/TrEMBL
  E5RJI0_HUMAN UniProtKB/TrEMBL
  E5RJZ4_HUMAN UniProtKB/TrEMBL
  E7EW14_HUMAN UniProtKB/TrEMBL
  LIPL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16282 ENTREZGENE
  Q16283 ENTREZGENE
  Q53HW6 ENTREZGENE, UniProtKB/TrEMBL
  Q6IAV0_HUMAN UniProtKB/TrEMBL
  Q8NEW3_HUMAN UniProtKB/TrEMBL
  Q96FC4 ENTREZGENE
UniProt Secondary B2R5T9 UniProtKB/Swiss-Prot
  Q16282 UniProtKB/Swiss-Prot
  Q16283 UniProtKB/Swiss-Prot
  Q96FC4 UniProtKB/Swiss-Prot