CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2) - Rat Genome Database

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Gene: CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2) Homo sapiens
Analyze
Symbol: CELSR2
Name: cadherin EGF LAG seven-pass G-type receptor 2
RGD ID: 733345
HGNC Page HGNC:3231
Description: Predicted to enable G protein-coupled receptor activity. Predicted to be involved in several processes, including dendrite morphogenesis; homophilic cell adhesion via plasma membrane adhesion molecules; and neural plate anterior/posterior regionalization. Predicted to act upstream of or within several processes, including cerebrospinal fluid secretion; cilium assembly; and nervous system development. Predicted to be located in cytoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADGRC2; adhesion G protein-coupled receptor C2; cadherin family member 10; cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila); CDHF10; EGF-like protein 2; EGF-like-domain, multiple 2; EGFL2; epidermal growth factor-like 2; epidermal growth factor-like protein 2; flamingo homolog 3; Flamingo1; FLJ34118; FLJ42737; FLJ45143; FLJ45845; KIAA0279; MEGF3; multiple EGF like domains 3; multiple EGF-like domains protein 3; multiple epidermal growth factor-like domains 3; multiple epidermal growth factor-like domains protein 3
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,249,539 - 109,275,751 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,249,539 - 109,275,751 (+)EnsemblGRCh38hg38GRCh38
GRCh371109,792,161 - 109,818,373 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361109,594,164 - 109,619,901 (+)NCBINCBI36Build 36hg18NCBI36
Build 341109,504,682 - 109,530,414NCBI
Celera1108,062,003 - 108,087,743 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1107,685,865 - 107,711,622 (+)NCBIHuRef
CHM1_11109,907,493 - 109,933,231 (+)NCBICHM1_1
T2T-CHM13v2.01109,282,346 - 109,308,548 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
Bisphenol Z  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
isoflavones  (ISO)
L-methionine  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
picene  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetraphene  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening. Nakayama M, etal., Genomics 1998 Jul 1;51(1):27-34.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9039502   PMID:10380929   PMID:10716726   PMID:10907856   PMID:14702039   PMID:16169070   PMID:17474147   PMID:18179892   PMID:18193043   PMID:18193044   PMID:18262040   PMID:18649068  
PMID:19060906   PMID:19060910   PMID:19060911   PMID:19198609   PMID:19299407   PMID:19487539   PMID:19913121   PMID:19936222   PMID:20031591   PMID:20167577   PMID:20339536   PMID:20370913  
PMID:20442857   PMID:20570916   PMID:20571754   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20691829   PMID:20738937   PMID:20864672   PMID:20971364   PMID:21087763   PMID:21239051  
PMID:21347282   PMID:21378988   PMID:21873635   PMID:21875946   PMID:21909109   PMID:21943158   PMID:22003152   PMID:23118302   PMID:24097068   PMID:24431302   PMID:24674750   PMID:24886709  
PMID:26186194   PMID:26464717   PMID:26638075   PMID:28052552   PMID:28514442   PMID:29240829   PMID:29489009   PMID:29507755   PMID:30639242   PMID:31586073   PMID:32293343   PMID:32460013  
PMID:33810964   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34478580   PMID:34983065   PMID:35696571   PMID:35748872   PMID:36976175   PMID:37224017   PMID:37499664   PMID:39358380  


Genomics

Comparative Map Data
CELSR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,249,539 - 109,275,751 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,249,539 - 109,275,751 (+)EnsemblGRCh38hg38GRCh38
GRCh371109,792,161 - 109,818,373 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361109,594,164 - 109,619,901 (+)NCBINCBI36Build 36hg18NCBI36
Build 341109,504,682 - 109,530,414NCBI
Celera1108,062,003 - 108,087,743 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1107,685,865 - 107,711,622 (+)NCBIHuRef
CHM1_11109,907,493 - 109,933,231 (+)NCBICHM1_1
T2T-CHM13v2.01109,282,346 - 109,308,548 (+)NCBIT2T-CHM13v2.0
Celsr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393108,298,164 - 108,323,416 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3108,298,167 - 108,323,383 (-)EnsemblGRCm39 Ensembl
GRCm383108,390,848 - 108,416,069 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3108,390,851 - 108,415,552 (-)EnsemblGRCm38mm10GRCm38
MGSCv373108,193,766 - 108,218,412 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363108,520,500 - 108,543,550 (-)NCBIMGSCv36mm8
Celera3110,725,058 - 110,749,705 (-)NCBICelera
Cytogenetic Map3F3NCBI
cM Map347.02NCBI
Celsr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82198,717,333 - 198,741,689 (-)NCBIGRCr8
mRatBN7.22196,029,206 - 196,053,848 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2196,029,434 - 196,053,845 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2203,673,871 - 203,696,491 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02201,555,989 - 201,578,609 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02196,372,945 - 196,395,565 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02211,183,410 - 211,207,458 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2211,183,311 - 211,207,465 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02230,653,341 - 230,677,459 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42203,960,513 - 203,983,133 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12203,923,277 - 203,943,562 (-)NCBI
Celera2188,676,929 - 188,699,559 (-)NCBICelera
Cytogenetic Map2q34NCBI
Celsr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543512,671,759 - 12,695,564 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543512,671,759 - 12,695,070 (+)NCBIChiLan1.0ChiLan1.0
CELSR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21118,028,278 - 118,054,493 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11117,188,189 - 117,214,398 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01111,627,551 - 111,653,775 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11110,791,720 - 110,817,125 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1110,791,682 - 110,815,421 (+)Ensemblpanpan1.1panPan2
CELSR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1642,547,638 - 42,573,407 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl642,548,983 - 42,573,962 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha645,322,198 - 45,348,111 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0642,878,783 - 42,904,743 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl642,879,935 - 42,904,724 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1642,610,137 - 42,636,081 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0642,568,221 - 42,594,142 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0643,003,504 - 43,029,464 (-)NCBIUU_Cfam_GSD_1.0
Celsr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505819,310,286 - 19,334,616 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936704778,480 - 803,886 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936704779,528 - 803,860 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CELSR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4110,819,428 - 110,845,132 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14110,819,422 - 110,845,354 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24121,290,848 - 121,295,430 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CELSR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12024,270,963 - 24,296,263 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2024,270,952 - 24,296,647 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603834,162,262 - 34,190,697 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Celsr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247724,990,178 - 5,014,119 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247724,990,185 - 5,014,008 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CELSR2
488 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001408.3(CELSR2):c.6859G>A (p.Val2287Ile) single nucleotide variant CELSR2-related disorder [RCV003942466]|Idiopathic scoliosis [RCV000656435]|not provided [RCV001851119] Chr1:109269470 [GRCh38]
Chr1:109812092 [GRCh37]
Chr1:1p13.3
likely pathogenic|likely benign|uncertain significance
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2
pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
NM_001408.3(CELSR2):c.2641C>T (p.Arg881Ter) single nucleotide variant CELSR2-related disorder [RCV003974444] Chr1:109252720 [GRCh38]
Chr1:109795342 [GRCh37]
Chr1:109596865 [NCBI36]
Chr1:1p13.3
uncertain significance|not provided
NC_000001.11:g.109274968G>T single nucleotide variant Low density lipoprotein cholesterol level quantitative trait locus 6 [RCV000007497] Chr1:109274968 [GRCh38]
Chr1:109817590 [GRCh37]
Chr1:1p13.3
association
NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup) duplication Orofacial-digital syndrome III [RCV000256426]|not provided [RCV003556304] Chr1:109272915..109272916 [GRCh38]
Chr1:109815537..109815538 [GRCh37]
Chr1:1p13.3
likely pathogenic|uncertain significance
GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3 copy number gain See cases [RCV000138606] Chr1:108970247..109794222 [GRCh38]
Chr1:109512869..110336844 [GRCh37]
Chr1:109314392..110138367 [NCBI36]
Chr1:1p13.3
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001408.3(CELSR2):c.2381A>G (p.Gln794Arg) single nucleotide variant not provided [RCV000487986] Chr1:109252460 [GRCh38]
Chr1:109795082 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7213C>T (p.Arg2405Cys) single nucleotide variant not specified [RCV004291318] Chr1:109270038 [GRCh38]
Chr1:109812660 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4685T>C (p.Ile1562Thr) single nucleotide variant not provided [RCV000488301] Chr1:109262946 [GRCh38]
Chr1:109805568 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.478_482delinsAAAA (p.Glu160fs) indel not provided [RCV000598904] Chr1:109250557..109250561 [GRCh38]
Chr1:109793179..109793183 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu) single nucleotide variant Global developmental delay [RCV000454284] Chr1:109258951 [GRCh38]
Chr1:109801573 [GRCh37]
Chr1:1p13.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3 copy number gain See cases [RCV000510931] Chr1:109343840..109868178 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6331G>T (p.Val2111Leu) single nucleotide variant not specified [RCV004289755] Chr1:109268593 [GRCh38]
Chr1:109811215 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5627G>A (p.Arg1876His) single nucleotide variant not specified [RCV004304631] Chr1:109265211 [GRCh38]
Chr1:109807833 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2281G>A (p.Asp761Asn) single nucleotide variant not specified [RCV004295924] Chr1:109252360 [GRCh38]
Chr1:109794982 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6487G>A (p.Val2163Ile) single nucleotide variant not specified [RCV004296657] Chr1:109268749 [GRCh38]
Chr1:109811371 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4852C>T (p.His1618Tyr) single nucleotide variant not specified [RCV004318355] Chr1:109263628 [GRCh38]
Chr1:109806250 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5137G>A (p.Gly1713Ser) single nucleotide variant not specified [RCV004293789] Chr1:109264213 [GRCh38]
Chr1:109806835 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1259G>A (p.Arg420Gln) single nucleotide variant not specified [RCV004307867] Chr1:109251338 [GRCh38]
Chr1:109793960 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2966G>A (p.Arg989Gln) single nucleotide variant not provided [RCV003779905]|not specified [RCV004290671] Chr1:109253045 [GRCh38]
Chr1:109795667 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6886C>T (p.Arg2296Trp) single nucleotide variant not specified [RCV004290063] Chr1:109269497 [GRCh38]
Chr1:109812119 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_001408.3(CELSR2):c.6048G>T (p.Gly2016=) single nucleotide variant not provided [RCV003825390] Chr1:109267582 [GRCh38]
Chr1:109810204 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2418C>T (p.Asn806=) single nucleotide variant not provided [RCV001531005] Chr1:109252497 [GRCh38]
Chr1:109795119 [GRCh37]
Chr1:1p13.3
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2
likely pathogenic
GRCh37/hg19 1p13.3(chr1:109798803-109817838)x1 copy number loss not provided [RCV000736644] Chr1:109798803..109817838 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
NM_001408.3(CELSR2):c.7243C>T (p.Leu2415=) single nucleotide variant not provided [RCV000918782] Chr1:109270068 [GRCh38]
Chr1:109812690 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3800A>G (p.His1267Arg) single nucleotide variant not provided [RCV000963240] Chr1:109258921 [GRCh38]
Chr1:109801543 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3197G>A (p.Arg1066Gln) single nucleotide variant CELSR2-related disorder [RCV003926083]|not provided [RCV000958482] Chr1:109253276 [GRCh38]
Chr1:109795898 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8478C>T (p.Pro2826=) single nucleotide variant CELSR2-related disorder [RCV003978326]|not provided [RCV000958483] Chr1:109273305 [GRCh38]
Chr1:109815927 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8413G>A (p.Gly2805Arg) single nucleotide variant CELSR2-related disorder [RCV003902956]|not provided [RCV000916288] Chr1:109273240 [GRCh38]
Chr1:109815862 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.1137G>C (p.Arg379=) single nucleotide variant not provided [RCV000978465] Chr1:109251216 [GRCh38]
Chr1:109793838 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3579C>T (p.Pro1193=) single nucleotide variant not provided [RCV000943744] Chr1:109258700 [GRCh38]
Chr1:109801322 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4329G>T (p.Val1443=) single nucleotide variant not provided [RCV000900804] Chr1:109261839 [GRCh38]
Chr1:109804461 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5819A>G (p.Asp1940Gly) single nucleotide variant not provided [RCV000883806] Chr1:109265826 [GRCh38]
Chr1:109808448 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8419C>G (p.Pro2807Ala) single nucleotide variant not provided [RCV000883807] Chr1:109273246 [GRCh38]
Chr1:109815868 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5235C>T (p.Gly1745=) single nucleotide variant not provided [RCV000969406] Chr1:109264311 [GRCh38]
Chr1:109806933 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.4704G>T (p.Val1568=) single nucleotide variant not provided [RCV000883871] Chr1:109262965 [GRCh38]
Chr1:109805587 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8154G>A (p.Thr2718=) single nucleotide variant not provided [RCV000966280] Chr1:109272843 [GRCh38]
Chr1:109815465 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.7590C>T (p.Ala2530=) single nucleotide variant not provided [RCV000926776] Chr1:109271033 [GRCh38]
Chr1:109813655 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8055-5C>T single nucleotide variant not provided [RCV000906449] Chr1:109272635 [GRCh38]
Chr1:109815257 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.481A>C (p.Arg161=) single nucleotide variant not provided [RCV000946480] Chr1:109250560 [GRCh38]
Chr1:109793182 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3273C>T (p.Asn1091=) single nucleotide variant not provided [RCV000883018] Chr1:109253352 [GRCh38]
Chr1:109795974 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.4248T>C (p.Phe1416=) single nucleotide variant not provided [RCV000969405] Chr1:109261579 [GRCh38]
Chr1:109804201 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7159A>G (p.Thr2387Ala) single nucleotide variant not provided [RCV000963764] Chr1:109269984 [GRCh38]
Chr1:109812606 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.4494C>T (p.Val1498=) single nucleotide variant not provided [RCV000928100] Chr1:109262394 [GRCh38]
Chr1:109805016 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2532T>C (p.Ser844=) single nucleotide variant CELSR2-related disorder [RCV003902830]|not provided [RCV000908116] Chr1:109252611 [GRCh38]
Chr1:109795233 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6663C>T (p.Pro2221=) single nucleotide variant CELSR2-related disorder [RCV003902832]|not provided [RCV000908118] Chr1:109269141 [GRCh38]
Chr1:109811763 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6903C>T (p.Pro2301=) single nucleotide variant CELSR2-related disorder [RCV003902833]|not provided [RCV000908119] Chr1:109269514 [GRCh38]
Chr1:109812136 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.4464C>T (p.Asp1488=) single nucleotide variant not provided [RCV000916716] Chr1:109262364 [GRCh38]
Chr1:109804986 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3992G>A (p.Arg1331His) single nucleotide variant not provided [RCV000893356] Chr1:109261075 [GRCh38]
Chr1:109803697 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6048G>A (p.Gly2016=) single nucleotide variant not provided [RCV000920443] Chr1:109267582 [GRCh38]
Chr1:109810204 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.35CGC[6] (p.Pro16dup) microsatellite not provided [RCV000946479] Chr1:109250113..109250114 [GRCh38]
Chr1:109792735..109792736 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.376C>A (p.Gln126Lys) single nucleotide variant CELSR2-related disorder [RCV003905878]|not provided [RCV000964446] Chr1:109250455 [GRCh38]
Chr1:109250455..109250456 [GRCh38]
Chr1:109793077 [GRCh37]
Chr1:109793077..109793078 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7977C>T (p.Tyr2659=) single nucleotide variant CELSR2-related disorder [RCV003970496]|not provided [RCV000922303] Chr1:109272328 [GRCh38]
Chr1:109814950 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5912-4G>A single nucleotide variant not provided [RCV000928507] Chr1:109266101 [GRCh38]
Chr1:109808723 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8464G>A (p.Gly2822Arg) single nucleotide variant not provided [RCV000897706] Chr1:109273291 [GRCh38]
Chr1:109815913 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.333C>T (p.Pro111=) single nucleotide variant not provided [RCV000954369] Chr1:109250412 [GRCh38]
Chr1:109793034 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.125C>A (p.Ser42Tyr) single nucleotide variant not specified [RCV004311765] Chr1:109250204 [GRCh38]
Chr1:109792826 [GRCh37]
Chr1:1p13.3
uncertain significance
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3
likely pathogenic
GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3 copy number gain not provided [RCV000848378] Chr1:109612444..109857815 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1941C>G (p.Ile647Met) single nucleotide variant not provided [RCV000994061] Chr1:109252020 [GRCh38]
Chr1:109794642 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3552C>T (p.Ser1184=) single nucleotide variant not provided [RCV000895044] Chr1:109258673 [GRCh38]
Chr1:109801295 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.903C>T (p.Asn301=) single nucleotide variant CELSR2-related disorder [RCV003940805]|not provided [RCV000897803] Chr1:109250982 [GRCh38]
Chr1:109793604 [GRCh37]
Chr1:1p13.3
benign|likely benign
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3
not provided
NM_001408.3(CELSR2):c.6744C>T (p.Ser2248=) single nucleotide variant not provided [RCV000896191] Chr1:109269222 [GRCh38]
Chr1:109811844 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8646A>G (p.Pro2882=) single nucleotide variant CELSR2-related disorder [RCV003933098]|not provided [RCV000920441] Chr1:109273572 [GRCh38]
Chr1:109816194 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.427C>T (p.Leu143Phe) single nucleotide variant not provided [RCV000963060] Chr1:109250506 [GRCh38]
Chr1:109793128 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5741G>A (p.Arg1914Gln) single nucleotide variant not provided [RCV001092056] Chr1:109265748 [GRCh38]
Chr1:109808370 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109801239-109901996)x3 copy number gain not provided [RCV000845930] Chr1:109801239..109901996 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2654C>T (p.Ala885Val) single nucleotide variant not specified [RCV004299651] Chr1:109252733 [GRCh38]
Chr1:109795355 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6220G>A (p.Val2074Ile) single nucleotide variant not specified [RCV004289452] Chr1:109267962 [GRCh38]
Chr1:109810584 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5309C>T (p.Thr1770Met) single nucleotide variant not specified [RCV004302427] Chr1:109264473 [GRCh38]
Chr1:109807095 [GRCh37]
Chr1:1p13.3
uncertain significance
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3
pathogenic
NC_000001.10:g.(?_109816624)_(109816671_?)dup duplication not provided [RCV003107396] Chr1:109816624..109816671 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2788G>A (p.Val930Met) single nucleotide variant not specified [RCV004319020] Chr1:109252867 [GRCh38]
Chr1:109795489 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6719T>C (p.Leu2240Pro) single nucleotide variant not specified [RCV004326483] Chr1:109269197 [GRCh38]
Chr1:109811819 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6723C>G (p.Ser2241Arg) single nucleotide variant not specified [RCV004301720] Chr1:109269201 [GRCh38]
Chr1:109811823 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1610A>G (p.Asn537Ser) single nucleotide variant not provided [RCV000907750] Chr1:109251689 [GRCh38]
Chr1:109794311 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1150G>T (p.Ala384Ser) single nucleotide variant CELSR2-related disorder [RCV003915985]|not provided [RCV000958844] Chr1:109251229 [GRCh38]
Chr1:109793851 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5253C>T (p.Ala1751=) single nucleotide variant not provided [RCV000909864] Chr1:109264329 [GRCh38]
Chr1:109806951 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6523G>A (p.Asp2175Asn) single nucleotide variant not provided [RCV000952298] Chr1:109268900 [GRCh38]
Chr1:109811522 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5794T>G (p.Leu1932Val) single nucleotide variant CELSR2-related disorder [RCV003920681]|not provided [RCV000887330] Chr1:109265801 [GRCh38]
Chr1:109808423 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3041T>A (p.Leu1014His) single nucleotide variant not provided [RCV000954582] Chr1:109253120 [GRCh38]
Chr1:109795742 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7548T>C (p.Tyr2516=) single nucleotide variant not provided [RCV000928101] Chr1:109270991 [GRCh38]
Chr1:109813613 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.272G>A (p.Arg91Lys) single nucleotide variant not provided [RCV000974854] Chr1:109250351 [GRCh38]
Chr1:109792973 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3543C>T (p.Leu1181=) single nucleotide variant CELSR2-related disorder [RCV003912906]|not provided [RCV000903501] Chr1:109258664 [GRCh38]
Chr1:109801286 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3363C>T (p.Thr1121=) single nucleotide variant not provided [RCV000963763] Chr1:109258484 [GRCh38]
Chr1:109801106 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.1892C>T (p.Thr631Met) single nucleotide variant not provided [RCV000909409] Chr1:109251971 [GRCh38]
Chr1:109794593 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.618C>T (p.Ile206=) single nucleotide variant not provided [RCV000892604] Chr1:109250697 [GRCh38]
Chr1:109793319 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5400C>T (p.Asn1800=) single nucleotide variant CELSR2-related disorder [RCV003902831]|not provided [RCV000908117] Chr1:109264564 [GRCh38]
Chr1:109807186 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7649G>A (p.Arg2550Gln) single nucleotide variant not provided [RCV000954843] Chr1:109271269 [GRCh38]
Chr1:109813891 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2379C>T (p.Pro793=) single nucleotide variant not provided [RCV000907484] Chr1:109252458 [GRCh38]
Chr1:109795080 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7484-7G>C single nucleotide variant not provided [RCV000916717] Chr1:109270920 [GRCh38]
Chr1:109813542 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.732C>T (p.Ala244=) single nucleotide variant not provided [RCV000907534] Chr1:109250811 [GRCh38]
Chr1:109793433 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.2001A>G (p.Val667=) single nucleotide variant CELSR2-related disorder [RCV003950681]|not provided [RCV000907596] Chr1:109252080 [GRCh38]
Chr1:109794702 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8054+9C>T single nucleotide variant CELSR2-related disorder [RCV003975630]|not provided [RCV000891188] Chr1:109272414 [GRCh38]
Chr1:109815036 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6189G>A (p.Thr2063=) single nucleotide variant not provided [RCV000912096] Chr1:109267931 [GRCh38]
Chr1:109810553 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6024G>A (p.Val2008=) single nucleotide variant not provided [RCV000890471] Chr1:109267558 [GRCh38]
Chr1:109810180 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1754A>G (p.His585Arg) single nucleotide variant not provided [RCV000911466] Chr1:109251833 [GRCh38]
Chr1:109794455 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3 copy number gain not provided [RCV002473471] Chr1:109350810..109838970 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2489C>T (p.Pro830Leu) single nucleotide variant not provided [RCV000994062] Chr1:109252568 [GRCh38]
Chr1:109795190 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1 copy number loss not provided [RCV001005129] Chr1:109396970..109807574 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6769G>A (p.Gly2257Arg) single nucleotide variant not provided [RCV001092057]|not specified [RCV004031981] Chr1:109269247 [GRCh38]
Chr1:109811869 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser) single nucleotide variant Tracheoesophageal fistula [RCV001172288] Chr1:109252937 [GRCh38]
Chr1:109795559 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001408.3(CELSR2):c.2325T>C (p.Tyr775=) single nucleotide variant not provided [RCV001609778] Chr1:109252404 [GRCh38]
Chr1:109795026 [GRCh37]
Chr1:1p13.3
benign
NC_000001.10:g.(?_109428145)_(109816671_?)dup duplication not provided [RCV001308191] Chr1:109428145..109816671 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.83C>T (p.Pro28Leu) single nucleotide variant not provided [RCV001434105] Chr1:109250162 [GRCh38]
Chr1:109792784 [GRCh37]
Chr1:1p13.3
likely benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_001408.3(CELSR2):c.6758G>A (p.Arg2253His) single nucleotide variant not provided [RCV001472376] Chr1:109269236 [GRCh38]
Chr1:109811858 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2774A>G (p.Glu925Gly) single nucleotide variant not provided [RCV001907715] Chr1:109252853 [GRCh38]
Chr1:109795475 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4708+13G>A single nucleotide variant not provided [RCV001983259] Chr1:109262982 [GRCh38]
Chr1:109805604 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2
pathogenic
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1 copy number loss not provided [RCV001827629] Chr1:108346477..110177123 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8567T>A (p.Leu2856His) single nucleotide variant not provided [RCV001895903] Chr1:109273493 [GRCh38]
Chr1:109816115 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109396970-109807574) copy number gain not specified [RCV002053580] Chr1:109396970..109807574 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5933G>A (p.Arg1978Gln) single nucleotide variant not provided [RCV001947757]|not specified [RCV004043499] Chr1:109266126 [GRCh38]
Chr1:109808748 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3983G>A (p.Arg1328His) single nucleotide variant not provided [RCV002020416] Chr1:109261066 [GRCh38]
Chr1:109803688 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5403G>A (p.Pro1801=) single nucleotide variant CELSR2-related disorder [RCV003978439]|not provided [RCV002002222] Chr1:109264567 [GRCh38]
Chr1:109807189 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.875A>G (p.Gln292Arg) single nucleotide variant not provided [RCV001912994] Chr1:109250954 [GRCh38]
Chr1:109793576 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5480A>G (p.Asn1827Ser) single nucleotide variant not provided [RCV001965295] Chr1:109264883 [GRCh38]
Chr1:109807505 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2617G>A (p.Val873Met) single nucleotide variant not provided [RCV001987093] Chr1:109252696 [GRCh38]
Chr1:109795318 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.475G>A (p.Gly159Arg) single nucleotide variant not provided [RCV001931894]|not specified [RCV004039776] Chr1:109250554 [GRCh38]
Chr1:109793176 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5399A>T (p.Asn1800Ile) single nucleotide variant not provided [RCV001962215] Chr1:109264563 [GRCh38]
Chr1:109807185 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6920G>A (p.Arg2307His) single nucleotide variant not provided [RCV001991135] Chr1:109269531 [GRCh38]
Chr1:109812153 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3725G>A (p.Arg1242His) single nucleotide variant not provided [RCV001920008] Chr1:109258846 [GRCh38]
Chr1:109801468 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1813G>A (p.Asp605Asn) single nucleotide variant not provided [RCV001918636] Chr1:109251892 [GRCh38]
Chr1:109794514 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5713G>A (p.Glu1905Lys) single nucleotide variant not provided [RCV001974911] Chr1:109265297 [GRCh38]
Chr1:109807919 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6742A>G (p.Ser2248Gly) single nucleotide variant not provided [RCV002010626] Chr1:109269220 [GRCh38]
Chr1:109811842 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5444A>G (p.Tyr1815Cys) single nucleotide variant not provided [RCV001973122] Chr1:109264608 [GRCh38]
Chr1:109807230 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6499A>G (p.Ile2167Val) single nucleotide variant not provided [RCV001877083] Chr1:109268761 [GRCh38]
Chr1:109811383 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8105C>A (p.Pro2702Gln) single nucleotide variant not provided [RCV002035556] Chr1:109272690 [GRCh38]
Chr1:109815312 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8534C>T (p.Pro2845Leu) single nucleotide variant not provided [RCV002031310] Chr1:109273460 [GRCh38]
Chr1:109816082 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4800C>T (p.Cys1600=) single nucleotide variant not provided [RCV002130439] Chr1:109263233 [GRCh38]
Chr1:109805855 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2283T>C (p.Asp761=) single nucleotide variant not provided [RCV002108134] Chr1:109252362 [GRCh38]
Chr1:109794984 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1620G>A (p.Leu540=) single nucleotide variant not provided [RCV002146757] Chr1:109251699 [GRCh38]
Chr1:109794321 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8143+18T>C single nucleotide variant not provided [RCV002086130] Chr1:109272746 [GRCh38]
Chr1:109815368 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7265C>G (p.Ala2422Gly) single nucleotide variant not provided [RCV002092521] Chr1:109270090 [GRCh38]
Chr1:109812712 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6503-7T>C single nucleotide variant not provided [RCV002124686] Chr1:109268873 [GRCh38]
Chr1:109811495 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8412C>T (p.Asn2804=) single nucleotide variant not provided [RCV002072542] Chr1:109273239 [GRCh38]
Chr1:109815861 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.6510C>T (p.Ser2170=) single nucleotide variant not provided [RCV002071444] Chr1:109268887 [GRCh38]
Chr1:109811509 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5313G>A (p.Pro1771=) single nucleotide variant CELSR2-related disorder [RCV003978800]|not provided [RCV002106294] Chr1:109264477 [GRCh38]
Chr1:109807099 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.50T>C (p.Leu17Pro) single nucleotide variant not provided [RCV002185637] Chr1:109250129 [GRCh38]
Chr1:109792751 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7044C>T (p.His2348=) single nucleotide variant not provided [RCV002186842] Chr1:109269757 [GRCh38]
Chr1:109812379 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.5850C>T (p.Ile1950=) single nucleotide variant not provided [RCV002107412] Chr1:109265857 [GRCh38]
Chr1:109808479 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6612G>A (p.Leu2204=) single nucleotide variant not provided [RCV002188422] Chr1:109268989 [GRCh38]
Chr1:109811611 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2907T>C (p.Phe969=) single nucleotide variant not provided [RCV002127738] Chr1:109252986 [GRCh38]
Chr1:109795608 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8628A>C (p.Gly2876=) single nucleotide variant not provided [RCV002207199] Chr1:109273554 [GRCh38]
Chr1:109816176 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8434C>T (p.Arg2812Trp) single nucleotide variant CELSR2-related disorder [RCV003903560]|not provided [RCV002146510] Chr1:109273261 [GRCh38]
Chr1:109815883 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4680C>T (p.Asp1560=) single nucleotide variant not provided [RCV002191853] Chr1:109262941 [GRCh38]
Chr1:109805563 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6044_6045delinsAA (p.Arg2015Lys) indel not provided [RCV002113209] Chr1:109267578..109267579 [GRCh38]
Chr1:109810200..109810201 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7483+20_7483+33del deletion not provided [RCV002116105] Chr1:109270615..109270628 [GRCh38]
Chr1:109813237..109813250 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8535C>T (p.Pro2845=) single nucleotide variant not provided [RCV002170573] Chr1:109273461 [GRCh38]
Chr1:109816083 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3007C>T (p.Leu1003=) single nucleotide variant not provided [RCV002093722] Chr1:109253086 [GRCh38]
Chr1:109795708 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3522C>T (p.Asp1174=) single nucleotide variant not provided [RCV002212274] Chr1:109258643 [GRCh38]
Chr1:109801265 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8417C>T (p.Ala2806Val) single nucleotide variant not provided [RCV002096550] Chr1:109273244 [GRCh38]
Chr1:109815866 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5546C>T (p.Ala1849Val) single nucleotide variant not provided [RCV002085315] Chr1:109264949 [GRCh38]
Chr1:109807571 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6180C>A (p.Arg2060=) single nucleotide variant not provided [RCV002114161] Chr1:109267922 [GRCh38]
Chr1:109810544 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7876C>T (p.Arg2626Cys) single nucleotide variant CELSR2-related disorder [RCV003933667]|not provided [RCV002186210] Chr1:109271672 [GRCh38]
Chr1:109814294 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7080T>C (p.Ala2360=) single nucleotide variant not provided [RCV002195618] Chr1:109269793 [GRCh38]
Chr1:109812415 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3378C>T (p.Thr1126=) single nucleotide variant CELSR2-related disorder [RCV003968730]|not provided [RCV002172070] Chr1:109258499 [GRCh38]
Chr1:109258499..109258500 [GRCh38]
Chr1:109801121 [GRCh37]
Chr1:109801121..109801122 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7108-20C>T single nucleotide variant not provided [RCV002134277] Chr1:109269913 [GRCh38]
Chr1:109812535 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6027C>T (p.Arg2009=) single nucleotide variant not provided [RCV002124734] Chr1:109267561 [GRCh38]
Chr1:109810183 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5040A>C (p.Thr1680=) single nucleotide variant not provided [RCV002209333] Chr1:109264116 [GRCh38]
Chr1:109806738 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4915T>C (p.Tyr1639His) single nucleotide variant CELSR2-related disorder [RCV003978576]|not provided [RCV002213198] Chr1:109263691 [GRCh38]
Chr1:109806313 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.1736G>C (p.Gly579Ala) single nucleotide variant not provided [RCV002095814] Chr1:109251815 [GRCh38]
Chr1:109794437 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5289+13C>T single nucleotide variant not provided [RCV002094445] Chr1:109264378 [GRCh38]
Chr1:109807000 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3602C>T (p.Pro1201Leu) single nucleotide variant not provided [RCV002152591] Chr1:109258723 [GRCh38]
Chr1:109258723..109258724 [GRCh38]
Chr1:109801345 [GRCh37]
Chr1:109801345..109801346 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.108C>T (p.Pro36=) single nucleotide variant not provided [RCV002212377] Chr1:109250187 [GRCh38]
Chr1:109792809 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3591G>T (p.Pro1197=) single nucleotide variant not provided [RCV002078684] Chr1:109258712 [GRCh38]
Chr1:109801334 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2955C>T (p.Asp985=) single nucleotide variant not provided [RCV002162653] Chr1:109253034 [GRCh38]
Chr1:109795656 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8259C>T (p.Ala2753=) single nucleotide variant not provided [RCV002162656] Chr1:109272948 [GRCh38]
Chr1:109815570 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1551T>C (p.Ser517=) single nucleotide variant not provided [RCV002162869] Chr1:109251630 [GRCh38]
Chr1:109794252 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3297C>T (p.Ser1099=) single nucleotide variant not provided [RCV002164628] Chr1:109253376 [GRCh38]
Chr1:109795998 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7309-5C>T single nucleotide variant not provided [RCV002117542] Chr1:109270421 [GRCh38]
Chr1:109813043 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.4812T>C (p.Phe1604=) single nucleotide variant not provided [RCV002120104] Chr1:109263245 [GRCh38]
Chr1:109805867 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7927-20C>T single nucleotide variant not provided [RCV002136832] Chr1:109272258 [GRCh38]
Chr1:109814880 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8055-10A>G single nucleotide variant CELSR2-related disorder [RCV003978479]|not provided [RCV002099447] Chr1:109272630 [GRCh38]
Chr1:109815252 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8641C>T (p.Arg2881Cys) single nucleotide variant not provided [RCV002121435] Chr1:109273567 [GRCh38]
Chr1:109816189 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.1615C>T (p.Arg539Cys) single nucleotide variant not provided [RCV002161664] Chr1:109251694 [GRCh38]
Chr1:109794316 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2190G>A (p.Thr730=) single nucleotide variant CELSR2-related disorder [RCV003933349]|not provided [RCV002219590] Chr1:109252269 [GRCh38]
Chr1:109794891 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.1422G>C (p.Val474=) single nucleotide variant not provided [RCV002140103] Chr1:109251501 [GRCh38]
Chr1:109794123 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5136C>T (p.Pro1712=) single nucleotide variant CELSR2-related disorder [RCV003984173]|not provided [RCV002199429] Chr1:109264212 [GRCh38]
Chr1:109264212..109264213 [GRCh38]
Chr1:109806834 [GRCh37]
Chr1:109806834..109806835 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.7506C>T (p.Pro2502=) single nucleotide variant not provided [RCV003110843] Chr1:109270949 [GRCh38]
Chr1:109813571 [GRCh37]
Chr1:1p13.3
likely benign
NC_000001.10:g.(?_109428145)_(109817590_?)dup duplication not provided [RCV003122419] Chr1:109428145..109817590 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3298G>A (p.Val1100Met) single nucleotide variant not provided [RCV003121663] Chr1:109253377 [GRCh38]
Chr1:109795999 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.100G>A (p.Val34Met) single nucleotide variant not specified [RCV004298731] Chr1:109250179 [GRCh38]
Chr1:109792801 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7595C>T (p.Ser2532Leu) single nucleotide variant not specified [RCV004281647] Chr1:109271038 [GRCh38]
Chr1:109813660 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3 copy number gain not provided [RCV002474651] Chr1:109396971..109807574 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3 copy number gain not provided [RCV002474707] Chr1:109371874..109906234 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1963C>T (p.Arg655Cys) single nucleotide variant not specified [RCV004314539] Chr1:109252042 [GRCh38]
Chr1:109794664 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3274C>T (p.Arg1092Trp) single nucleotide variant not specified [RCV004333109] Chr1:109253353 [GRCh38]
Chr1:109795975 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8572C>G (p.Leu2858Val) single nucleotide variant not provided [RCV002297881] Chr1:109273498 [GRCh38]
Chr1:109816120 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8642G>A (p.Arg2881His) single nucleotide variant not provided [RCV002971927] Chr1:109273568 [GRCh38]
Chr1:109816190 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3512G>C (p.Arg1171Pro) single nucleotide variant not specified [RCV004128626] Chr1:109258633 [GRCh38]
Chr1:109801255 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6303C>G (p.Asp2101Glu) single nucleotide variant not provided [RCV003033430] Chr1:109268045 [GRCh38]
Chr1:109810667 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5682C>T (p.Gly1894=) single nucleotide variant not provided [RCV003016052] Chr1:109265266 [GRCh38]
Chr1:109807888 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4395G>T (p.Leu1465Phe) single nucleotide variant not specified [RCV004202683] Chr1:109262295 [GRCh38]
Chr1:109804917 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6588G>A (p.Pro2196=) single nucleotide variant CELSR2-related disorder [RCV003926668]|not provided [RCV003074628] Chr1:109268965 [GRCh38]
Chr1:109811587 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.5517C>T (p.His1839=) single nucleotide variant not provided [RCV002881709] Chr1:109264920 [GRCh38]
Chr1:109807542 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8564G>A (p.Arg2855Gln) single nucleotide variant not specified [RCV004160911] Chr1:109273490 [GRCh38]
Chr1:109816112 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4508C>A (p.Ser1503Tyr) single nucleotide variant not specified [RCV004182315] Chr1:109262408 [GRCh38]
Chr1:109805030 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3944G>T (p.Arg1315Leu) single nucleotide variant not specified [RCV004227910] Chr1:109259065 [GRCh38]
Chr1:109801687 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7720G>A (p.Ala2574Thr) single nucleotide variant not provided [RCV003720678]|not specified [RCV004127926] Chr1:109271429 [GRCh38]
Chr1:109814051 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6274C>T (p.Arg2092Trp) single nucleotide variant not specified [RCV004210018] Chr1:109268016 [GRCh38]
Chr1:109810638 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7417G>A (p.Asp2473Asn) single nucleotide variant not specified [RCV004245769] Chr1:109270534 [GRCh38]
Chr1:109813156 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8339-5A>C single nucleotide variant not provided [RCV002780122] Chr1:109273161 [GRCh38]
Chr1:109815783 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1812C>T (p.Asn604=) single nucleotide variant not provided [RCV003034712] Chr1:109251891 [GRCh38]
Chr1:109794513 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.937G>T (p.Ala313Ser) single nucleotide variant not specified [RCV004128921] Chr1:109251016 [GRCh38]
Chr1:109793638 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6982G>T (p.Val2328Phe) single nucleotide variant not specified [RCV004228753] Chr1:109269695 [GRCh38]
Chr1:109812317 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5576C>G (p.Pro1859Arg) single nucleotide variant not specified [RCV004234015] Chr1:109264979 [GRCh38]
Chr1:109807601 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3347G>A (p.Arg1116His) single nucleotide variant not provided [RCV003015198] Chr1:109258468 [GRCh38]
Chr1:109801090 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4361C>T (p.Thr1454Met) single nucleotide variant not specified [RCV004098843] Chr1:109261871 [GRCh38]
Chr1:109804493 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6511G>A (p.Val2171Ile) single nucleotide variant not provided [RCV002617279] Chr1:109268888 [GRCh38]
Chr1:109811510 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8407G>T (p.Gly2803Cys) single nucleotide variant not specified [RCV004127928] Chr1:109273234 [GRCh38]
Chr1:109815856 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2070C>T (p.Gly690=) single nucleotide variant not provided [RCV002967461] Chr1:109252149 [GRCh38]
Chr1:109794771 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4896G>C (p.Leu1632=) single nucleotide variant not provided [RCV002755561] Chr1:109263672 [GRCh38]
Chr1:109806294 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2996C>T (p.Thr999Met) single nucleotide variant not provided [RCV002993565]|not specified [RCV004065179] Chr1:109253075 [GRCh38]
Chr1:109795697 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8276A>G (p.Gln2759Arg) single nucleotide variant CELSR2-related disorder [RCV003973564]|not provided [RCV002947658]|not specified [RCV004067218] Chr1:109272965 [GRCh38]
Chr1:109815587 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001408.3(CELSR2):c.4927A>C (p.Met1643Leu) single nucleotide variant not specified [RCV004159110] Chr1:109263703 [GRCh38]
Chr1:109806325 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.71T>A (p.Leu24Gln) single nucleotide variant not specified [RCV004164582] Chr1:109250150 [GRCh38]
Chr1:109792772 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6432C>T (p.Tyr2144=) single nucleotide variant not provided [RCV002979296] Chr1:109268694 [GRCh38]
Chr1:109811316 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5962C>T (p.Arg1988Cys) single nucleotide variant not specified [RCV004093910] Chr1:109266155 [GRCh38]
Chr1:109808777 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8542A>T (p.Ser2848Cys) single nucleotide variant not specified [RCV004176151] Chr1:109273468 [GRCh38]
Chr1:109816090 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6109-12C>T single nucleotide variant not provided [RCV002781430] Chr1:109267839 [GRCh38]
Chr1:109810461 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1651T>C (p.Phe551Leu) single nucleotide variant not specified [RCV004075827] Chr1:109251730 [GRCh38]
Chr1:109794352 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3529G>A (p.Gly1177Arg) single nucleotide variant not specified [RCV004237411] Chr1:109258650 [GRCh38]
Chr1:109801272 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4048G>A (p.Gly1350Ser) single nucleotide variant not specified [RCV004105067] Chr1:109261131 [GRCh38]
Chr1:109803753 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5052C>T (p.Ala1684=) single nucleotide variant not provided [RCV002734997] Chr1:109264128 [GRCh38]
Chr1:109806750 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4119C>T (p.Pro1373=) single nucleotide variant not provided [RCV002948503] Chr1:109261202 [GRCh38]
Chr1:109803824 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1945A>C (p.Ser649Arg) single nucleotide variant not specified [RCV004134927] Chr1:109252024 [GRCh38]
Chr1:109794646 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4865G>A (p.Ser1622Asn) single nucleotide variant not provided [RCV002736176] Chr1:109263641 [GRCh38]
Chr1:109806263 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4736A>T (p.Asp1579Val) single nucleotide variant CELSR2-related disorder [RCV003943515]|not provided [RCV002885810] Chr1:109263169 [GRCh38]
Chr1:109805791 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4709G>A (p.Gly1570Asp) single nucleotide variant not provided [RCV003077569]|not specified [RCV004071744] Chr1:109263142 [GRCh38]
Chr1:109805764 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8636C>T (p.Pro2879Leu) single nucleotide variant not specified [RCV004120753] Chr1:109273562 [GRCh38]
Chr1:109816184 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6402C>T (p.Thr2134=) single nucleotide variant not provided [RCV002590641] Chr1:109268664 [GRCh38]
Chr1:109811286 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3756C>T (p.Ser1252=) single nucleotide variant not provided [RCV002780277] Chr1:109258877 [GRCh38]
Chr1:109801499 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3640A>T (p.Ser1214Cys) single nucleotide variant not specified [RCV004112107] Chr1:109258761 [GRCh38]
Chr1:109801383 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2669G>A (p.Arg890Gln) single nucleotide variant not provided [RCV002639508] Chr1:109252748 [GRCh38]
Chr1:109795370 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3373C>T (p.Leu1125Phe) single nucleotide variant not specified [RCV004225922] Chr1:109258494 [GRCh38]
Chr1:109801116 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3856G>A (p.Glu1286Lys) single nucleotide variant not specified [RCV004086303] Chr1:109258977 [GRCh38]
Chr1:109801599 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7484-19G>A single nucleotide variant not provided [RCV002576385] Chr1:109270908 [GRCh38]
Chr1:109813530 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6041A>C (p.His2014Pro) single nucleotide variant not specified [RCV004226915] Chr1:109267575 [GRCh38]
Chr1:109810197 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4199G>A (p.Arg1400His) single nucleotide variant not specified [RCV004144418] Chr1:109261530 [GRCh38]
Chr1:109804152 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6058C>G (p.Pro2020Ala) single nucleotide variant not specified [RCV004071076] Chr1:109267592 [GRCh38]
Chr1:109810214 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4834+15T>G single nucleotide variant not provided [RCV003059689] Chr1:109263282 [GRCh38]
Chr1:109805904 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4760G>T (p.Gly1587Val) single nucleotide variant not specified [RCV004094054] Chr1:109263193 [GRCh38]
Chr1:109805815 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7360T>G (p.Phe2454Val) single nucleotide variant not provided [RCV002597311] Chr1:109270477 [GRCh38]
Chr1:109813099 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4933C>T (p.Arg1645Cys) single nucleotide variant not specified [RCV004161343] Chr1:109263709 [GRCh38]
Chr1:109806331 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.164G>T (p.Gly55Val) single nucleotide variant not specified [RCV004076224] Chr1:109250243 [GRCh38]
Chr1:109792865 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1417C>T (p.Arg473Trp) single nucleotide variant not provided [RCV002597197] Chr1:109251496 [GRCh38]
Chr1:109794118 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1553T>A (p.Val518Asp) single nucleotide variant not specified [RCV004172508] Chr1:109251632 [GRCh38]
Chr1:109794254 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5974G>A (p.Gly1992Arg) single nucleotide variant CELSR2-related disorder [RCV003926564]|not provided [RCV002957565] Chr1:109266167 [GRCh38]
Chr1:109808789 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001408.3(CELSR2):c.1108A>G (p.Ser370Gly) single nucleotide variant not specified [RCV004179951] Chr1:109251187 [GRCh38]
Chr1:109793809 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4940G>A (p.Arg1647His) single nucleotide variant not specified [RCV004142609] Chr1:109263716 [GRCh38]
Chr1:109806338 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1516G>A (p.Val506Ile) single nucleotide variant not provided [RCV003082695] Chr1:109251595 [GRCh38]
Chr1:109794217 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7429G>A (p.Gly2477Ser) single nucleotide variant not specified [RCV004181177] Chr1:109270546 [GRCh38]
Chr1:109813168 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2624C>T (p.Thr875Met) single nucleotide variant not provided [RCV002700489] Chr1:109252703 [GRCh38]
Chr1:109795325 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3364G>A (p.Asp1122Asn) single nucleotide variant not specified [RCV004137473] Chr1:109258485 [GRCh38]
Chr1:109801107 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2687A>G (p.Lys896Arg) single nucleotide variant not specified [RCV004154187] Chr1:109252766 [GRCh38]
Chr1:109795388 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6125G>A (p.Arg2042Gln) single nucleotide variant not specified [RCV004198267] Chr1:109267867 [GRCh38]
Chr1:109810489 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3160C>T (p.Pro1054Ser) single nucleotide variant not specified [RCV004116895] Chr1:109253239 [GRCh38]
Chr1:109795861 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2524C>T (p.Arg842Cys) single nucleotide variant not provided [RCV002741955] Chr1:109252603 [GRCh38]
Chr1:109795225 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.839C>T (p.Thr280Ile) single nucleotide variant not provided [RCV003548958]|not specified [RCV004221838] Chr1:109250918 [GRCh38]
Chr1:109793540 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4660C>T (p.Arg1554Trp) single nucleotide variant not specified [RCV004183998] Chr1:109262921 [GRCh38]
Chr1:109805543 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8435G>A (p.Arg2812Gln) single nucleotide variant not specified [RCV004112467] Chr1:109273262 [GRCh38]
Chr1:109815884 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4640G>A (p.Arg1547Gln) single nucleotide variant not specified [RCV004222661] Chr1:109262901 [GRCh38]
Chr1:109805523 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3739C>A (p.Leu1247Met) single nucleotide variant not specified [RCV004193891] Chr1:109258860 [GRCh38]
Chr1:109801482 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5134C>T (p.Pro1712Ser) single nucleotide variant not specified [RCV004092138] Chr1:109264210 [GRCh38]
Chr1:109806832 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6247C>T (p.Arg2083Trp) single nucleotide variant not provided [RCV002575324]|not specified [RCV004064378] Chr1:109267989 [GRCh38]
Chr1:109810611 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3955A>G (p.Thr1319Ala) single nucleotide variant not provided [RCV003085620] Chr1:109259076 [GRCh38]
Chr1:109801698 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3047G>T (p.Arg1016Leu) single nucleotide variant not specified [RCV004108897] Chr1:109253126 [GRCh38]
Chr1:109795748 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6283G>A (p.Gly2095Arg) single nucleotide variant not specified [RCV004144448] Chr1:109268025 [GRCh38]
Chr1:109810647 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6562G>A (p.Glu2188Lys) single nucleotide variant not provided [RCV002596159] Chr1:109268939 [GRCh38]
Chr1:109811561 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4408C>T (p.Leu1470Phe) single nucleotide variant not specified [RCV004232259] Chr1:109262308 [GRCh38]
Chr1:109804930 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.35CGC[7] (p.Pro16_Leu17insProPro) microsatellite not provided [RCV002957564] Chr1:109250113..109250114 [GRCh38]
Chr1:109792735..109792736 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7058G>A (p.Cys2353Tyr) single nucleotide variant not specified [RCV004121642] Chr1:109269771 [GRCh38]
Chr1:109812393 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5720A>C (p.His1907Pro) single nucleotide variant not specified [RCV004184004] Chr1:109265304 [GRCh38]
Chr1:109807926 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5566G>A (p.Glu1856Lys) single nucleotide variant not specified [RCV004179692] Chr1:109264969 [GRCh38]
Chr1:109807591 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8065G>C (p.Ala2689Pro) single nucleotide variant not specified [RCV004224735] Chr1:109272650 [GRCh38]
Chr1:109815272 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6401C>G (p.Thr2134Ser) single nucleotide variant not specified [RCV004095298] Chr1:109268663 [GRCh38]
Chr1:109811285 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5709C>T (p.Ser1903=) single nucleotide variant CELSR2-related disorder [RCV003973665]|not provided [RCV003082320] Chr1:109265293 [GRCh38]
Chr1:109807915 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.8508A>G (p.Lys2836=) single nucleotide variant not provided [RCV002643766] Chr1:109273335 [GRCh38]
Chr1:109815957 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.572C>T (p.Pro191Leu) single nucleotide variant not specified [RCV004243642] Chr1:109250651 [GRCh38]
Chr1:109793273 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2486C>T (p.Pro829Leu) single nucleotide variant not provided [RCV002714893] Chr1:109252565 [GRCh38]
Chr1:109795187 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5787A>G (p.Thr1929=) single nucleotide variant not provided [RCV002581810] Chr1:109265794 [GRCh38]
Chr1:109808416 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4333G>A (p.Gly1445Arg) single nucleotide variant not provided [RCV003091804] Chr1:109261843 [GRCh38]
Chr1:109804465 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3504C>T (p.Asn1168=) single nucleotide variant not provided [RCV003029871] Chr1:109258625 [GRCh38]
Chr1:109801247 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4785G>A (p.Ala1595=) single nucleotide variant not provided [RCV002716977] Chr1:109263218 [GRCh38]
Chr1:109805840 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1575C>T (p.Leu525=) single nucleotide variant not provided [RCV003091465] Chr1:109251654 [GRCh38]
Chr1:109794276 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3313G>A (p.Gly1105Ser) single nucleotide variant not specified [RCV004180889] Chr1:109258434 [GRCh38]
Chr1:109801056 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6364C>T (p.Arg2122Trp) single nucleotide variant not provided [RCV002629103] Chr1:109268626 [GRCh38]
Chr1:109811248 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.745C>T (p.Arg249Cys) single nucleotide variant not specified [RCV004160291] Chr1:109250824 [GRCh38]
Chr1:109793446 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5783C>G (p.Pro1928Arg) single nucleotide variant not provided [RCV002922491] Chr1:109265790 [GRCh38]
Chr1:109808412 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2575G>A (p.Asp859Asn) single nucleotide variant not specified [RCV004075116] Chr1:109252654 [GRCh38]
Chr1:109795276 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6722G>A (p.Ser2241Asn) single nucleotide variant not specified [RCV004164897] Chr1:109269200 [GRCh38]
Chr1:109811822 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6064C>T (p.Leu2022Phe) single nucleotide variant not provided [RCV002648194] Chr1:109267598 [GRCh38]
Chr1:109810220 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6555C>T (p.Pro2185=) single nucleotide variant CELSR2-related disorder [RCV003936621]|not provided [RCV002629307] Chr1:109268932 [GRCh38]
Chr1:109811554 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001408.3(CELSR2):c.2959G>A (p.Glu987Lys) single nucleotide variant not specified [RCV004156229] Chr1:109253038 [GRCh38]
Chr1:109795660 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1121G>A (p.Arg374Gln) single nucleotide variant not specified [RCV004089342] Chr1:109251200 [GRCh38]
Chr1:109793822 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2237G>A (p.Arg746His) single nucleotide variant not provided [RCV002599746] Chr1:109252316 [GRCh38]
Chr1:109794938 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5305G>A (p.Asp1769Asn) single nucleotide variant not provided [RCV003009116] Chr1:109264469 [GRCh38]
Chr1:109807091 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7483+13A>C single nucleotide variant not provided [RCV002834169] Chr1:109270613 [GRCh38]
Chr1:109813235 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2370T>C (p.Asn790=) single nucleotide variant not provided [RCV003011180] Chr1:109252449 [GRCh38]
Chr1:109795071 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1070G>A (p.Arg357Gln) single nucleotide variant not provided [RCV002601390] Chr1:109251149 [GRCh38]
Chr1:109793771 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8636C>A (p.Pro2879His) single nucleotide variant not provided [RCV003063583] Chr1:109273562 [GRCh38]
Chr1:109816184 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8509+13C>T single nucleotide variant not provided [RCV002646776] Chr1:109273349 [GRCh38]
Chr1:109815971 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1588A>G (p.Ile530Val) single nucleotide variant not provided [RCV002601491] Chr1:109251667 [GRCh38]
Chr1:109794289 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5189T>C (p.Leu1730Pro) single nucleotide variant not specified [RCV004174735] Chr1:109264265 [GRCh38]
Chr1:109806887 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.798G>C (p.Met266Ile) single nucleotide variant not provided [RCV002988371] Chr1:109250877 [GRCh38]
Chr1:109793499 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1976C>T (p.Thr659Ile) single nucleotide variant not provided [RCV002578633] Chr1:109252055 [GRCh38]
Chr1:109794677 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5310G>A (p.Thr1770=) single nucleotide variant not provided [RCV003011181] Chr1:109264474 [GRCh38]
Chr1:109807096 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.752C>T (p.Thr251Ile) single nucleotide variant not specified [RCV004090635] Chr1:109250831 [GRCh38]
Chr1:109793453 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4996C>T (p.Leu1666=) single nucleotide variant not provided [RCV002671140] Chr1:109263772 [GRCh38]
Chr1:109806394 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7024G>A (p.Val2342Ile) single nucleotide variant not specified [RCV004168947] Chr1:109269737 [GRCh38]
Chr1:109812359 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8543G>A (p.Ser2848Asn) single nucleotide variant not specified [RCV004221942] Chr1:109273469 [GRCh38]
Chr1:109816091 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5405G>C (p.Cys1802Ser) single nucleotide variant not specified [RCV004084995] Chr1:109264569 [GRCh38]
Chr1:109807191 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.395C>T (p.Pro132Leu) single nucleotide variant not specified [RCV004094441] Chr1:109250474 [GRCh38]
Chr1:109793096 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1543C>T (p.Leu515=) single nucleotide variant not provided [RCV002635940] Chr1:109251622 [GRCh38]
Chr1:109794244 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7719C>T (p.Ser2573=) single nucleotide variant not provided [RCV002606158] Chr1:109271428 [GRCh38]
Chr1:109814050 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3653C>A (p.Ala1218Asp) single nucleotide variant not specified [RCV004217726] Chr1:109258774 [GRCh38]
Chr1:109801396 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1683G>C (p.Trp561Cys) single nucleotide variant not specified [RCV004091743] Chr1:109251762 [GRCh38]
Chr1:109794384 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1796C>G (p.Thr599Ser) single nucleotide variant not provided [RCV002587582] Chr1:109251875 [GRCh38]
Chr1:109794497 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6109-17C>T single nucleotide variant not provided [RCV002586208] Chr1:109267834 [GRCh38]
Chr1:109810456 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3341C>T (p.Ala1114Val) single nucleotide variant not provided [RCV002589806]|not specified [RCV004064635] Chr1:109258462 [GRCh38]
Chr1:109801084 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7150C>G (p.Leu2384Val) single nucleotide variant not specified [RCV004330784] Chr1:109269975 [GRCh38]
Chr1:109812597 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3811G>C (p.Gly1271Arg) single nucleotide variant not specified [RCV004270662] Chr1:109258932 [GRCh38]
Chr1:109801554 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4694A>G (p.Asn1565Ser) single nucleotide variant not specified [RCV004257194] Chr1:109262955 [GRCh38]
Chr1:109805577 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1520G>C (p.Ser507Thr) single nucleotide variant not provided [RCV003410294]|not specified [RCV004248576] Chr1:109251599 [GRCh38]
Chr1:109794221 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2288A>C (p.Asp763Ala) single nucleotide variant not specified [RCV004287451] Chr1:109252367 [GRCh38]
Chr1:109794989 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6403G>A (p.Ala2135Thr) single nucleotide variant not specified [RCV004271450] Chr1:109268665 [GRCh38]
Chr1:109811287 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4C>T (p.Arg2Trp) single nucleotide variant not specified [RCV004258026] Chr1:109250083 [GRCh38]
Chr1:109792705 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7450A>G (p.Met2484Val) single nucleotide variant not specified [RCV004262098] Chr1:109270567 [GRCh38]
Chr1:109813189 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4106C>T (p.Thr1369Met) single nucleotide variant not specified [RCV004327692] Chr1:109261189 [GRCh38]
Chr1:109803811 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.199C>T (p.Leu67Phe) single nucleotide variant not specified [RCV004333166] Chr1:109250278 [GRCh38]
Chr1:109792900 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6359A>G (p.Asn2120Ser) single nucleotide variant not specified [RCV004316139] Chr1:109268621 [GRCh38]
Chr1:109811243 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5561C>T (p.Thr1854Ile) single nucleotide variant not specified [RCV004323367] Chr1:109264964 [GRCh38]
Chr1:109807586 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2083A>G (p.Thr695Ala) single nucleotide variant not specified [RCV004351169] Chr1:109252162 [GRCh38]
Chr1:109794784 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1009T>C (p.Ser337Pro) single nucleotide variant not specified [RCV004354829] Chr1:109251088 [GRCh38]
Chr1:109793710 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4353G>C (p.Gln1451His) single nucleotide variant not specified [RCV004365153] Chr1:109261863 [GRCh38]
Chr1:109804485 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.490G>C (p.Glu164Gln) single nucleotide variant not specified [RCV004353627] Chr1:109250569 [GRCh38]
Chr1:109793191 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3557C>T (p.Ser1186Leu) single nucleotide variant not specified [RCV004344229] Chr1:109258678 [GRCh38]
Chr1:109801300 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8648C>T (p.Pro2883Leu) single nucleotide variant not specified [RCV004336663] Chr1:109273574 [GRCh38]
Chr1:109816196 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.499C>G (p.Leu167Val) single nucleotide variant not specified [RCV004360678] Chr1:109250578 [GRCh38]
Chr1:109793200 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1841A>G (p.Glu614Gly) single nucleotide variant not specified [RCV004341506] Chr1:109251920 [GRCh38]
Chr1:109794542 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7679C>T (p.Ser2560Leu) single nucleotide variant not specified [RCV004352802] Chr1:109271388 [GRCh38]
Chr1:109814010 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8227G>A (p.Glu2743Lys) single nucleotide variant not specified [RCV004356818] Chr1:109272916 [GRCh38]
Chr1:109815538 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6713C>T (p.Pro2238Leu) single nucleotide variant not specified [RCV004357121] Chr1:109269191 [GRCh38]
Chr1:109811813 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.799C>G (p.Pro267Ala) single nucleotide variant not specified [RCV004357122] Chr1:109250878 [GRCh38]
Chr1:109793500 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1033C>T (p.Arg345Cys) single nucleotide variant not specified [RCV004334788] Chr1:109251112 [GRCh38]
Chr1:109793734 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1010C>A (p.Ser337Tyr) single nucleotide variant not specified [RCV004354830] Chr1:109251089 [GRCh38]
Chr1:109793711 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7237C>T (p.Arg2413Cys) single nucleotide variant not specified [RCV004334605] Chr1:109270062 [GRCh38]
Chr1:109812684 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4658G>A (p.Ser1553Asn) single nucleotide variant not provided [RCV003872839] Chr1:109262919 [GRCh38]
Chr1:109805541 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 copy number loss not provided [RCV003483272] Chr1:109483388..112293512 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
GRCh37/hg19 1p13.3(chr1:109494147-109818306)x3 copy number gain not provided [RCV003484027] Chr1:109494147..109818306 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4728C>T (p.Asn1576=) single nucleotide variant not provided [RCV003406647] Chr1:109263161 [GRCh38]
Chr1:109805783 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4875G>A (p.Val1625=) single nucleotide variant not provided [RCV003406648] Chr1:109263651 [GRCh38]
Chr1:109806273 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7005G>A (p.Ser2335=) single nucleotide variant not provided [RCV003406651] Chr1:109269718 [GRCh38]
Chr1:109812340 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6642C>T (p.Pro2214=) single nucleotide variant CELSR2-related disorder [RCV003906715]|not provided [RCV003406650] Chr1:109269120 [GRCh38]
Chr1:109811742 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7335G>T (p.Leu2445=) single nucleotide variant not provided [RCV003406652] Chr1:109270452 [GRCh38]
Chr1:109813074 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7390C>T (p.Leu2464=) single nucleotide variant not provided [RCV003406653] Chr1:109270507 [GRCh38]
Chr1:109813129 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2085G>A (p.Thr695=) single nucleotide variant not provided [RCV003406643] Chr1:109252164 [GRCh38]
Chr1:109794786 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3192T>C (p.Phe1064=) single nucleotide variant not provided [RCV003406645] Chr1:109253271 [GRCh38]
Chr1:109795893 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4374A>G (p.Lys1458=) single nucleotide variant not provided [RCV003406646] Chr1:109261884 [GRCh38]
Chr1:109804506 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2925C>T (p.Ser975=) single nucleotide variant not provided [RCV003406644] Chr1:109253004 [GRCh38]
Chr1:109795626 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4884T>C (p.His1628=) single nucleotide variant not provided [RCV003406649] Chr1:109263660 [GRCh38]
Chr1:109806282 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5919T>C (p.Tyr1973=) single nucleotide variant not provided [RCV003577982] Chr1:109266112 [GRCh38]
Chr1:109808734 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.4729G>A (p.Val1577Met) single nucleotide variant not provided [RCV003546399] Chr1:109263162 [GRCh38]
Chr1:109805784 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5305G>T (p.Asp1769Tyr) single nucleotide variant not provided [RCV003661500] Chr1:109264469 [GRCh38]
Chr1:109807091 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3196C>T (p.Arg1066Trp) single nucleotide variant not provided [RCV003878601] Chr1:109253275 [GRCh38]
Chr1:109795897 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4636A>G (p.Met1546Val) single nucleotide variant not provided [RCV003877975] Chr1:109262897 [GRCh38]
Chr1:109805519 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.462C>T (p.Pro154=) single nucleotide variant not provided [RCV003545839] Chr1:109250541 [GRCh38]
Chr1:109793163 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7680G>A (p.Ser2560=) single nucleotide variant not provided [RCV003577070] Chr1:109271389 [GRCh38]
Chr1:109814011 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3342G>A (p.Ala1114=) single nucleotide variant not provided [RCV003739821] Chr1:109258463 [GRCh38]
Chr1:109801085 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6502+16G>A single nucleotide variant not provided [RCV003877801] Chr1:109268780 [GRCh38]
Chr1:109811402 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5094C>T (p.Asp1698=) single nucleotide variant not provided [RCV003575492] Chr1:109264170 [GRCh38]
Chr1:109806792 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.534C>T (p.Ala178=) single nucleotide variant not provided [RCV003690954] Chr1:109250613 [GRCh38]
Chr1:109793235 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6782A>G (p.His2261Arg) single nucleotide variant not provided [RCV003662210] Chr1:109269260 [GRCh38]
Chr1:109811882 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2388C>T (p.Ser796=) single nucleotide variant not provided [RCV003812237] Chr1:109252467 [GRCh38]
Chr1:109795089 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6918C>A (p.Phe2306Leu) single nucleotide variant not provided [RCV003580169] Chr1:109269529 [GRCh38]
Chr1:109812151 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5077C>T (p.Arg1693Trp) single nucleotide variant not provided [RCV003726655] Chr1:109264153 [GRCh38]
Chr1:109806775 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7788C>G (p.Thr2596=) single nucleotide variant not provided [RCV003699496] Chr1:109271497 [GRCh38]
Chr1:109814119 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6852C>T (p.Ser2284=) single nucleotide variant not provided [RCV003815904] Chr1:109269463 [GRCh38]
Chr1:109812085 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6406T>C (p.Trp2136Arg) single nucleotide variant not provided [RCV003837098]|not specified [RCV004366886] Chr1:109268668 [GRCh38]
Chr1:109811290 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1297G>A (p.Val433Met) single nucleotide variant not provided [RCV003579609] Chr1:109251376 [GRCh38]
Chr1:109793998 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6587C>T (p.Pro2196Leu) single nucleotide variant not provided [RCV003717824] Chr1:109268964 [GRCh38]
Chr1:109811586 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6556C>T (p.Arg2186Cys) single nucleotide variant not provided [RCV003838797] Chr1:109268933 [GRCh38]
Chr1:109811555 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7428C>T (p.Thr2476=) single nucleotide variant not provided [RCV003700213] Chr1:109270545 [GRCh38]
Chr1:109813167 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5128G>A (p.Gly1710Arg) single nucleotide variant not provided [RCV003836539] Chr1:109264204 [GRCh38]
Chr1:109806826 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5236G>A (p.Gly1746Arg) single nucleotide variant not provided [RCV003814522] Chr1:109264312 [GRCh38]
Chr1:109806934 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5328C>T (p.Ser1776=) single nucleotide variant not provided [RCV003706005] Chr1:109264492 [GRCh38]
Chr1:109807114 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2572G>A (p.Asp858Asn) single nucleotide variant not provided [RCV003819353] Chr1:109252651 [GRCh38]
Chr1:109795273 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8424G>C (p.Glu2808Asp) single nucleotide variant not provided [RCV003568090] Chr1:109273251 [GRCh38]
Chr1:109815873 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.75G>A (p.Leu25=) single nucleotide variant not provided [RCV003733201] Chr1:109250154 [GRCh38]
Chr1:109792776 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3932C>A (p.Thr1311Asn) single nucleotide variant not provided [RCV003683137] Chr1:109259053 [GRCh38]
Chr1:109801675 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3129G>A (p.Gly1043=) single nucleotide variant not provided [RCV003824212] Chr1:109253208 [GRCh38]
Chr1:109795830 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5290-5C>T single nucleotide variant not provided [RCV003556642] Chr1:109264449 [GRCh38]
Chr1:109807071 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6433G>A (p.Ala2145Thr) single nucleotide variant not provided [RCV003732219] Chr1:109268695 [GRCh38]
Chr1:109811317 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3 copy number gain not specified [RCV003987061] Chr1:109402942..109807574 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8544C>T (p.Ser2848=) single nucleotide variant not provided [RCV003553266] Chr1:109273470 [GRCh38]
Chr1:109816092 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7960C>T (p.Arg2654Trp) single nucleotide variant not provided [RCV003871025] Chr1:109272311 [GRCh38]
Chr1:109814933 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3 copy number gain not specified [RCV003986828] Chr1:109255293..109812358 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1193A>G (p.Gln398Arg) single nucleotide variant not provided [RCV003719233] Chr1:109251272 [GRCh38]
Chr1:109793894 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1 copy number loss not specified [RCV003987183] Chr1:109700156..112176616 [GRCh37]
Chr1:1p13.3-13.2
uncertain significance
NM_001408.3(CELSR2):c.5410G>A (p.Ala1804Thr) single nucleotide variant not provided [RCV003553869] Chr1:109264574 [GRCh38]
Chr1:109807196 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7045G>A (p.Val2349Ile) single nucleotide variant not provided [RCV003562283] Chr1:109269758 [GRCh38]
Chr1:109812380 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6005G>A (p.Gly2002Asp) single nucleotide variant not provided [RCV003847864] Chr1:109266198 [GRCh38]
Chr1:109808820 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4157G>A (p.Arg1386His) single nucleotide variant not provided [RCV003553406] Chr1:109261240 [GRCh38]
Chr1:109803862 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7464C>T (p.Gly2488=) single nucleotide variant CELSR2-related disorder [RCV003919264]|not provided [RCV003550751] Chr1:109270581 [GRCh38]
Chr1:109813203 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8217A>C (p.Ser2739=) single nucleotide variant CELSR2-related disorder [RCV003919677] Chr1:109272906 [GRCh38]
Chr1:109815528 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6572G>A (p.Arg2191His) single nucleotide variant CELSR2-related disorder [RCV003967101] Chr1:109268949 [GRCh38]
Chr1:109811571 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3193G>C (p.Glu1065Gln) single nucleotide variant CELSR2-related disorder [RCV003951410] Chr1:109253272 [GRCh38]
Chr1:109795894 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7737A>G (p.Ala2579=) single nucleotide variant CELSR2-related disorder [RCV003974218] Chr1:109271446 [GRCh38]
Chr1:109814068 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1792G>A (p.Val598Met) single nucleotide variant CELSR2-related disorder [RCV003961628] Chr1:109251871 [GRCh38]
Chr1:109794493 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.5508G>A (p.Pro1836=) single nucleotide variant CELSR2-related disorder [RCV003929424] Chr1:109264911 [GRCh38]
Chr1:109807533 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.3546C>T (p.Asn1182=) single nucleotide variant CELSR2-related disorder [RCV003894741] Chr1:109258667 [GRCh38]
Chr1:109801289 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6045G>A (p.Arg2015=) single nucleotide variant CELSR2-related disorder [RCV003917175] Chr1:109267579 [GRCh38]
Chr1:109810201 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6750C>A (p.Ile2250=) single nucleotide variant CELSR2-related disorder [RCV003932127] Chr1:109269228 [GRCh38]
Chr1:109811850 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.6159G>A (p.Gln2053=) single nucleotide variant CELSR2-related disorder [RCV003904315] Chr1:109267901 [GRCh38]
Chr1:109810523 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7788C>T (p.Thr2596=) single nucleotide variant CELSR2-related disorder [RCV003932174] Chr1:109271497 [GRCh38]
Chr1:109814119 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2178G>A (p.Pro726=) single nucleotide variant CELSR2-related disorder [RCV003981468] Chr1:109252257 [GRCh38]
Chr1:109794879 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7515C>T (p.Tyr2505=) single nucleotide variant CELSR2-related disorder [RCV003959553] Chr1:109270958 [GRCh38]
Chr1:109813580 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5973C>T (p.Phe1991=) single nucleotide variant CELSR2-related disorder [RCV003981728] Chr1:109266166 [GRCh38]
Chr1:109808788 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2583C>T (p.Asp861=) single nucleotide variant CELSR2-related disorder [RCV003929648] Chr1:109252662 [GRCh38]
Chr1:109795284 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6986G>A (p.Ser2329Asn) single nucleotide variant CELSR2-related disorder [RCV003917193] Chr1:109269699 [GRCh38]
Chr1:109812321 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.6044G>A (p.Arg2015Lys) single nucleotide variant CELSR2-related disorder [RCV003917222] Chr1:109267578 [GRCh38]
Chr1:109810200 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.8054+10G>A single nucleotide variant CELSR2-related disorder [RCV003917231] Chr1:109272415 [GRCh38]
Chr1:109815037 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.8571C>G (p.Pro2857=) single nucleotide variant CELSR2-related disorder [RCV003934297] Chr1:109273497 [GRCh38]
Chr1:109816119 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.5248C>T (p.Pro1750Ser) single nucleotide variant CELSR2-related disorder [RCV003954798] Chr1:109264324 [GRCh38]
Chr1:109806946 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.2084C>T (p.Thr695Met) single nucleotide variant CELSR2-related disorder [RCV003954572] Chr1:109252163 [GRCh38]
Chr1:109794785 [GRCh37]
Chr1:1p13.3
benign
NM_001408.3(CELSR2):c.3627A>G (p.Leu1209=) single nucleotide variant CELSR2-related disorder [RCV003956769] Chr1:109258748 [GRCh38]
Chr1:109801370 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.7698C>T (p.Phe2566=) single nucleotide variant CELSR2-related disorder [RCV003944343] Chr1:109271407 [GRCh38]
Chr1:109814029 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1307A>G (p.Tyr436Cys) single nucleotide variant not specified [RCV004433423] Chr1:109251386 [GRCh38]
Chr1:109794008 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1330C>T (p.Arg444Trp) single nucleotide variant not specified [RCV004433424] Chr1:109251409 [GRCh38]
Chr1:109794031 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1630C>T (p.Leu544Phe) single nucleotide variant not specified [RCV004433425] Chr1:109251709 [GRCh38]
Chr1:109794331 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2173C>T (p.Arg725Trp) single nucleotide variant not specified [RCV004433431] Chr1:109252252 [GRCh38]
Chr1:109794874 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3512G>A (p.Arg1171Gln) single nucleotide variant not specified [RCV004433439] Chr1:109258633 [GRCh38]
Chr1:109801255 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6704G>A (p.Arg2235Gln) single nucleotide variant not specified [RCV004433460] Chr1:109269182 [GRCh38]
Chr1:109811804 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5755C>T (p.Pro1919Ser) single nucleotide variant not specified [RCV004433450] Chr1:109265762 [GRCh38]
Chr1:109808384 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4768G>A (p.Val1590Met) single nucleotide variant not specified [RCV004433444] Chr1:109263201 [GRCh38]
Chr1:109805823 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3430C>G (p.Pro1144Ala) single nucleotide variant not specified [RCV004433438] Chr1:109258551 [GRCh38]
Chr1:109801173 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7808C>T (p.Pro2603Leu) single nucleotide variant not specified [RCV004433471] Chr1:109271604 [GRCh38]
Chr1:109814226 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8654G>A (p.Arg2885Gln) single nucleotide variant not specified [RCV004433474] Chr1:109273580 [GRCh38]
Chr1:109816202 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6901C>T (p.Pro2301Ser) single nucleotide variant not specified [RCV004433464] Chr1:109269512 [GRCh38]
Chr1:109812134 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1999G>A (p.Val667Ile) single nucleotide variant not specified [RCV004433427] Chr1:109252078 [GRCh38]
Chr1:109794700 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2030T>G (p.Leu677Arg) single nucleotide variant not specified [RCV004433428] Chr1:109252109 [GRCh38]
Chr1:109794731 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2089C>G (p.Gln697Glu) single nucleotide variant not specified [RCV004433429] Chr1:109252168 [GRCh38]
Chr1:109794790 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7235G>A (p.Arg2412Gln) single nucleotide variant not specified [RCV004433466] Chr1:109270060 [GRCh38]
Chr1:109812682 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7555C>T (p.Leu2519Phe) single nucleotide variant not specified [RCV004433468] Chr1:109270998 [GRCh38]
Chr1:109813620 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.779C>T (p.Thr260Met) single nucleotide variant not specified [RCV004433470] Chr1:109250858 [GRCh38]
Chr1:109793480 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8269G>A (p.Gly2757Arg) single nucleotide variant not specified [RCV004433472] Chr1:109272958 [GRCh38]
Chr1:109815580 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6097C>G (p.Leu2033Val) single nucleotide variant not specified [RCV004433457] Chr1:109267631 [GRCh38]
Chr1:109810253 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5818G>A (p.Asp1940Asn) single nucleotide variant not specified [RCV004433453] Chr1:109265825 [GRCh38]
Chr1:109808447 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4045G>A (p.Gly1349Ser) single nucleotide variant not specified [RCV004433443] Chr1:109261128 [GRCh38]
Chr1:109803750 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6858C>G (p.Ser2286Arg) single nucleotide variant not specified [RCV004433462] Chr1:109269469 [GRCh38]
Chr1:109812091 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5651G>A (p.Cys1884Tyr) single nucleotide variant not specified [RCV004433449] Chr1:109265235 [GRCh38]
Chr1:109807857 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2422G>A (p.Val808Met) single nucleotide variant not specified [RCV004433432] Chr1:109252501 [GRCh38]
Chr1:109795123 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7093G>A (p.Val2365Ile) single nucleotide variant not specified [RCV004433465] Chr1:109269806 [GRCh38]
Chr1:109812428 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6878T>G (p.Leu2293Arg) single nucleotide variant not specified [RCV004433463] Chr1:109269489 [GRCh38]
Chr1:109812111 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6824G>A (p.Arg2275His) single nucleotide variant not specified [RCV004433461] Chr1:109269435 [GRCh38]
Chr1:109812057 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6427G>A (p.Ala2143Thr) single nucleotide variant not specified [RCV004433459] Chr1:109268689 [GRCh38]
Chr1:109811311 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.587C>G (p.Ala196Gly) single nucleotide variant not specified [RCV004433455] Chr1:109250666 [GRCh38]
Chr1:109793288 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3917G>A (p.Arg1306His) single nucleotide variant not specified [RCV004433442] Chr1:109259038 [GRCh38]
Chr1:109801660 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2110G>A (p.Asp704Asn) single nucleotide variant not specified [RCV004433430] Chr1:109252189 [GRCh38]
Chr1:109794811 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.2551T>C (p.Phe851Leu) single nucleotide variant not specified [RCV004433433] Chr1:109252630 [GRCh38]
Chr1:109795252 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3110G>A (p.Arg1037His) single nucleotide variant not specified [RCV004433436] Chr1:109253189 [GRCh38]
Chr1:109795811 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7393T>C (p.Tyr2465His) single nucleotide variant not specified [RCV004433467] Chr1:109270510 [GRCh38]
Chr1:109813132 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5854C>T (p.Arg1952Cys) single nucleotide variant not specified [RCV004433454] Chr1:109265861 [GRCh38]
Chr1:109808483 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5812C>T (p.Pro1938Ser) single nucleotide variant not specified [RCV004433451] Chr1:109265819 [GRCh38]
Chr1:109808441 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5197C>T (p.Arg1733Trp) single nucleotide variant not specified [RCV004433446] Chr1:109264273 [GRCh38]
Chr1:109806895 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3419G>A (p.Arg1140His) single nucleotide variant not specified [RCV004612575] Chr1:109258540 [GRCh38]
Chr1:109801162 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8584A>G (p.Thr2862Ala) single nucleotide variant not specified [RCV004612577] Chr1:109273510 [GRCh38]
Chr1:109816132 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8563C>T (p.Arg2855Trp) single nucleotide variant not specified [RCV004612561] Chr1:109273489 [GRCh38]
Chr1:109816111 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.106C>A (p.Pro36Thr) single nucleotide variant not specified [RCV004612558] Chr1:109250185 [GRCh38]
Chr1:109792807 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3022A>G (p.Thr1008Ala) single nucleotide variant not specified [RCV004433434] Chr1:109253101 [GRCh38]
Chr1:109795723 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3667C>T (p.Arg1223Cys) single nucleotide variant not specified [RCV004433441] Chr1:109258788 [GRCh38]
Chr1:109801410 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1778C>T (p.Ser593Leu) single nucleotide variant not specified [RCV004433426] Chr1:109251857 [GRCh38]
Chr1:109794479 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3031G>A (p.Val1011Ile) single nucleotide variant not specified [RCV004433435] Chr1:109253110 [GRCh38]
Chr1:109795732 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3587G>A (p.Gly1196Glu) single nucleotide variant not specified [RCV004433440] Chr1:109258708 [GRCh38]
Chr1:109801330 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5973C>G (p.Phe1991Leu) single nucleotide variant not specified [RCV004433456] Chr1:109266166 [GRCh38]
Chr1:109808788 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6151C>T (p.Arg2051Cys) single nucleotide variant not specified [RCV004433458] Chr1:109267893 [GRCh38]
Chr1:109810515 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5266C>G (p.Arg1756Gly) single nucleotide variant not specified [RCV004433447] Chr1:109264342 [GRCh38]
Chr1:109806964 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3572C>T (p.Pro1191Leu) single nucleotide variant not specified [RCV004612578] Chr1:109258693 [GRCh38]
Chr1:109801315 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7204C>T (p.Arg2402Cys) single nucleotide variant not specified [RCV004612564] Chr1:109270029 [GRCh38]
Chr1:109812651 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1207C>T (p.Arg403Cys) single nucleotide variant not specified [RCV004612554] Chr1:109251286 [GRCh38]
Chr1:109793908 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5062C>T (p.Arg1688Cys) single nucleotide variant not specified [RCV004612566] Chr1:109264138 [GRCh38]
Chr1:109806760 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.214T>C (p.Cys72Arg) single nucleotide variant not specified [RCV004612573] Chr1:109250293 [GRCh38]
Chr1:109792915 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7724C>T (p.Thr2575Met) single nucleotide variant not specified [RCV004612563] Chr1:109271433 [GRCh38]
Chr1:109814055 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6025C>T (p.Arg2009Cys) single nucleotide variant not specified [RCV004612557] Chr1:109267559 [GRCh38]
Chr1:109810181 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3155A>G (p.His1052Arg) single nucleotide variant not specified [RCV004612567] Chr1:109253234 [GRCh38]
Chr1:109795856 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.4198C>T (p.Arg1400Cys) single nucleotide variant not specified [RCV004612568] Chr1:109261529 [GRCh38]
Chr1:109804151 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3982C>A (p.Arg1328Ser) single nucleotide variant not specified [RCV004612571] Chr1:109261065 [GRCh38]
Chr1:109803687 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8540T>A (p.Ile2847Asn) single nucleotide variant not specified [RCV004612580] Chr1:109273466 [GRCh38]
Chr1:109816088 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3227A>G (p.Asn1076Ser) single nucleotide variant not specified [RCV004612582] Chr1:109253306 [GRCh38]
Chr1:109795928 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7379A>C (p.Glu2460Ala) single nucleotide variant not specified [RCV004612555] Chr1:109270496 [GRCh38]
Chr1:109813118 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1471G>A (p.Val491Met) single nucleotide variant not specified [RCV004612552] Chr1:109251550 [GRCh38]
Chr1:109794172 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5792C>T (p.Ser1931Phe) single nucleotide variant not specified [RCV004612569] Chr1:109265799 [GRCh38]
Chr1:109808421 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8138A>G (p.Gln2713Arg) single nucleotide variant not specified [RCV004612579] Chr1:109272723 [GRCh38]
Chr1:109815345 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1046T>A (p.Ile349Asn) single nucleotide variant not specified [RCV004612583] Chr1:109251125 [GRCh38]
Chr1:109793747 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.8402G>A (p.Ser2801Asn) single nucleotide variant not specified [RCV004612553] Chr1:109273229 [GRCh38]
Chr1:109815851 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3505G>C (p.Val1169Leu) single nucleotide variant not specified [RCV004612572] Chr1:109258626 [GRCh38]
Chr1:109801248 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1199G>C (p.Ser400Thr) single nucleotide variant not specified [RCV004612574] Chr1:109251278 [GRCh38]
Chr1:109793900 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.3580G>A (p.Gly1194Arg) single nucleotide variant not specified [RCV004612556] Chr1:109258701 [GRCh38]
Chr1:109801323 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.6664G>A (p.Gly2222Arg) single nucleotide variant not specified [RCV004612562] Chr1:109269142 [GRCh38]
Chr1:109811764 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.1027G>A (p.Asp343Asn) single nucleotide variant not specified [RCV004612560] Chr1:109251106 [GRCh38]
Chr1:109793728 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.187T>C (p.Ser63Pro) single nucleotide variant not specified [RCV004612576] Chr1:109250266 [GRCh38]
Chr1:109792888 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.292G>A (p.Glu98Lys) single nucleotide variant not specified [RCV004612565] Chr1:109250371 [GRCh38]
Chr1:109792993 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.7205G>C (p.Arg2402Pro) single nucleotide variant not specified [RCV004612551] Chr1:109270030 [GRCh38]
Chr1:109812652 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001408.3(CELSR2):c.5490T>C (p.Asn1830=) single nucleotide variant CELSR2-related disorder [RCV004757734] Chr1:109264893 [GRCh38]
Chr1:109807515 [GRCh37]
Chr1:1p13.3
likely benign
NM_001408.3(CELSR2):c.1276C>T (p.Arg426Ter) single nucleotide variant CELSR2-related disorder [RCV004731851] Chr1:109251355 [GRCh38]
Chr1:109793977 [GRCh37]
Chr1:1p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1469
Count of miRNA genes:758
Interacting mature miRNAs:848
Transcripts:ENST00000271332, ENST00000459940, ENST00000489018, ENST00000498157
Prediction methods:Miranda, Rnahybrid
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
597176219GWAS1272293_Hfree cholesterol to total lipids in medium HDL percentage QTL GWAS1272293 (human)4e-12blood HDL cholesterol amount (VT:0000184)1109274968109274969Human
406910021GWAS558997_Htotal cholesterol measurement, hematocrit, stroke, ventricular rate measurement, body mass index, atrial fibrillation, high density lipoprotein cholesterol measurement, coronary artery disease, diastolic blood pressure, triglyceride measurement, systolic blood pressure, heart failure, diabetes mellitus, glucose measurement, mortality, cancer QTL GWAS558997 (human)1e-49pancreas integrity trait (VT:0010560)ratio of deaths to total study population during a period of time (CMO:0001023)1109275684109275685Human
597158801GWAS1254875_Hremnant cholesterol measurement QTL GWAS1254875 (human)1e-84remnant cholesterol measurement1109274968109274969Human
597602200GWAS1659060_Hcoronary artery disease QTL GWAS1659060 (human)2e-38coronary artery disease1109275684109275685Human
597150608GWAS1246682_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1246682 (human)4e-28total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275684109275685Human
597023644GWAS1119718_Hlow density lipoprotein cholesterol measurement QTL GWAS1119718 (human)7e-242low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597305232GWAS1401306_Hglomerular filtration rate QTL GWAS1401306 (human)8e-34glomerular filtration rateglomerular filtration rate (CMO:0000490)1109274570109274571Human
597174162GWAS1270236_Hfree cholesterol to total lipids in small HDL percentage QTL GWAS1270236 (human)7e-96blood HDL cholesterol amount (VT:0000184)1109274968109274969Human
597287830GWAS1383904_Hfatty acid measurement QTL GWAS1383904 (human)4e-14fatty acid measurement1109274570109274571Human
597042055GWAS1138129_Hserum metabolite measurement QTL GWAS1138129 (human)5e-11serum metabolite measurement1109274570109274571Human
597300107GWAS1396181_Hhemojuvelin measurement QTL GWAS1396181 (human)1e-14hemojuvelin measurement1109274968109274969Human
597597071GWAS1653931_Hlow density lipoprotein cholesterol measurement QTL GWAS1653931 (human)4e-154low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
596953991GWAS1073510_Htotal cholesterol measurement QTL GWAS1073510 (human)1e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597175179GWAS1271253_Hfatty acid measurement QTL GWAS1271253 (human)6e-13fatty acid measurement1109275684109275685Human
597017473GWAS1113547_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS1113547 (human)7e-19sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109270888109270889Human
597155727GWAS1251801_Hintermediate density lipoprotein measurement QTL GWAS1251801 (human)2e-89free cholesterol in large LDL measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
407025755GWAS674731_Hlow density lipoprotein cholesterol measurement QTL GWAS674731 (human)9e-29low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597597063GWAS1653923_Hlow density lipoprotein cholesterol measurement QTL GWAS1653923 (human)9e-95low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597182337GWAS1278411_Hlow density lipoprotein particle size measurement QTL GWAS1278411 (human)6e-23low density lipoprotein particle size measurementblood low density lipoprotein particle diameter (CMO:0002693)1109274968109274969Human
597165956GWAS1262030_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1262030 (human)4e-61very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597174149GWAS1270223_Hcholesteryl esters to total lipids in very large HDL percentage QTL GWAS1270223 (human)3e-28blood lipid amount (VT:0003949)1109274968109274969Human
597094326GWAS1190400_Hhigh density lipoprotein cholesterol measurement QTL GWAS1190400 (human)2e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109264661109264662Human
597174200GWAS1270274_Htotal phospholipids in lipoprotein particles measurement QTL GWAS1270274 (human)5e-20blood phospholipid amount (VT:0006084)1109274968109274969Human
597049271GWAS1145345_Hlow density lipoprotein cholesterol measurement QTL GWAS1145345 (human)2e-54low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597255096GWAS1351170_HAbdominal Aortic Aneurysm QTL GWAS1351170 (human)0.0000002Abdominal Aortic Aneurysm1109274968109274969Human
597177273GWAS1273347_Hcholesteryl ester measurement QTL GWAS1273347 (human)9e-59blood lipid amount (VT:0003949)1109274968109274969Human
597049269GWAS1145343_Hresponse to statin, LDL cholesterol change measurement QTL GWAS1145343 (human)0.000004blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597177278GWAS1273352_Hcholesterol in small VLDL measurement QTL GWAS1273352 (human)2e-65cholesterol in small VLDL measurement 1109274968109274969Human
597251006GWAS1347080_Hapolipoprotein A 1 measurement QTL GWAS1347080 (human)4e-10apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)1109256292109256293Human
407131235GWAS780211_Hlow density lipoprotein cholesterol measurement QTL GWAS780211 (human)1e-26low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597274551GWAS1370625_Hlow density lipoprotein cholesterol measurement QTL GWAS1370625 (human)7e-1290low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
596960187GWAS1079706_Hglomerular filtration rate QTL GWAS1079706 (human)8e-24glomerular filtration rateglomerular filtration rate (CMO:0000490)1109275684109275685Human
597256105GWAS1352179_Hmetabolic syndrome QTL GWAS1352179 (human)2e-30metabolic syndrome1109275536109275538Human
597259176GWAS1355250_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1355250 (human)1e-68phospholipids in small HDL measurement blood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597318571GWAS1414645_Htotal cholesterol measurement QTL GWAS1414645 (human)2e-62total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597151651GWAS1247725_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS1247725 (human)5e-118blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597179309GWAS1275383_Hfree cholesterol in medium VLDL measurement QTL GWAS1275383 (human)1e-63blood VLDL cholesterol amount (VT:0005144)blood total cholesterol level (CMO:0000051)1109274968109274969Human
597607333GWAS1664193_Htotal cholesterol measurement QTL GWAS1664193 (human)8e-62total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597258149GWAS1354223_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1354223 (human)1e-44free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597140393GWAS1236467_Hlow density lipoprotein cholesterol measurement QTL GWAS1236467 (human)3e-17blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597319589GWAS1415663_Hmetabolite measurement QTL GWAS1415663 (human)6e-11metabolite measurement1109274570109274571Human
597184423GWAS1280497_Hlow density lipoprotein cholesterol measurement QTL GWAS1280497 (human)1e-82low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597293990GWAS1390064_Hceramide measurement QTL GWAS1390064 (human)0.000005ceramide measurement1109275216109275217Human
597185497GWAS1281571_Htriglycerides in medium LDL measurement QTL GWAS1281571 (human)2e-28blood LDL triglyceride amount (VT:0010699)1109275684109275685Human
407086080GWAS735056_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS735056 (human)5e-50low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
596950999GWAS1070518_Hlow density lipoprotein cholesterol measurement QTL GWAS1070518 (human)0.000001coronary artery diseaseblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597184477GWAS1280551_Hcholesteryl ester measurement QTL GWAS1280551 (human)2e-74blood lipid amount (VT:0003949)1109274968109274969Human
597187549GWAS1283623_Hesterified cholesterol measurement QTL GWAS1283623 (human)1e-61esterified cholesterol measurement1109274968109274969Human
597155793GWAS1251867_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1251867 (human)4e-64very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597618646GWAS1675506_Hcoronary atherosclerosis QTL GWAS1675506 (human)8e-58coronary atherosclerosis1109274570109274571Human
597185491GWAS1281565_Hfree cholesterol measurement QTL GWAS1281565 (human)3e-66free cholesterol measurementblood cholesterol level (CMO:0002280)1109274968109274969Human
597287893GWAS1383967_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1383967 (human)5e-23cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597262293GWAS1358367_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1358367 (human)2e-28very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597252055GWAS1348129_Hfamilial hyperlipidemia QTL GWAS1348129 (human)7e-175familial hyperlipidemia1109274968109274969Human
597154777GWAS1250851_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1250851 (human)3e-49cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597052358GWAS1148432_Hvitamin D measurement QTL GWAS1148432 (human)2e-16vitamin D measurement1109274570109274571Human
597174216GWAS1270290_Hphospholipids in LDL measurement QTL GWAS1270290 (human)4e-96blood LDL phospholipid amount (VT:0010505)1109274968109274969Human
597120966GWAS1217040_Hlow density lipoprotein cholesterol measurement QTL GWAS1217040 (human)2e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109272630109272631Human
597323723GWAS1419797_H1-(1-enyl-oleoyl)-GPC (P-18:1) measurement QTL GWAS1419797 (human)7e-08glycerophosphocholine amount (VT:0011004)1109274623109274624Human
597262283GWAS1358357_Hhigh density lipoprotein cholesterol measurement QTL GWAS1358357 (human)1e-26high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597592013GWAS1648873_Hcoronary artery disease QTL GWAS1648873 (human)1e-71coronary artery disease1109274570109274571Human
597166027GWAS1262101_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1262101 (human)2e-23blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597288909GWAS1384983_Hfree cholesterol in small HDL measurement QTL GWAS1384983 (human)3e-33blood HDL cholesterol amount (VT:0000184)1109274968109274969Human
597322703GWAS1418777_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1418777 (human)8e-67non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109272630109272631Human
597607368GWAS1664228_Htotal cholesterol measurement QTL GWAS1664228 (human)3e-63total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597258177GWAS1354251_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1354251 (human)2e-68very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597137356GWAS1233430_Hprogranulin measurement QTL GWAS1233430 (human)2e-24progranulin measurement1109274968109274969Human
407086108GWAS735084_Hlow density lipoprotein cholesterol measurement QTL GWAS735084 (human)1e-98low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597046262GWAS1142336_HC-reactive protein measurement QTL GWAS1142336 (human)3e-12C-reactive protein measurementblood C-reactive protein level (CMO:0003160)1109274570109274571Human
597311481GWAS1407555_Htotal cholesterol measurement QTL GWAS1407555 (human)8e-28total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597284860GWAS1380934_Htriglycerides in IDL measurement QTL GWAS1380934 (human)8e-56triglycerides in IDL measurementblood lipoprotein triglyceride level (CMO:0002685)1109275216109275217Human
597025779GWAS1121853_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS1121853 (human)3e-32alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597618678GWAS1675538_Hheart disease QTL GWAS1675538 (human)7e-46heart disease1109274570109274571Human
597243891GWAS1339965_Hlow density lipoprotein cholesterol measurement QTL GWAS1339965 (human)2e-38low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109258723109258724Human
597271538GWAS1367612_Hgranulins measurement QTL GWAS1367612 (human)4e-104granulins measurement1109274968109274969Human
597288951GWAS1385025_Hsphingomyelin measurement QTL GWAS1385025 (human)2e-77sphingomyelin measurement1109275216109275217Human
597271542GWAS1367616_Hgranulins measurement QTL GWAS1367616 (human)1e-12granulins measurement1109262261109262262Human
597124071GWAS1220145_Hlow density lipoprotein cholesterol measurement QTL GWAS1220145 (human)1e-39low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597282795GWAS1378869_Hbody height QTL GWAS1378869 (human)1e-10body height (VT:0001253)body height (CMO:0000106)1109274968109274969Human
597049317GWAS1145391_Hresponse to statin, LDL cholesterol change measurement QTL GWAS1145391 (human)1e-17blood cholesterol amount (VT:0000180)blood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597148642GWAS1244716_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS1244716 (human)1e-41triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597175279GWAS1271353_Hcholesterol to total lipids in large HDL percentage QTL GWAS1271353 (human)9e-24cholesterol to total lipids in large HDL percentage 1109274968109274969Human
597166063GWAS1262137_Hlipid measurement, lipoprotein measurement QTL GWAS1262137 (human)1e-48very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597166050GWAS1262124_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1262124 (human)4e-165free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597071852GWAS1167926_Hlow density lipoprotein cholesterol measurement QTL GWAS1167926 (human)2e-28low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597149675GWAS1245749_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1245749 (human)1e-23triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597243677GWAS1339751_Hlow density lipoprotein cholesterol measurement QTL GWAS1339751 (human)3e-63low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109256292109256293Human
407083205GWAS732181_Hlow density lipoprotein cholesterol measurement QTL GWAS732181 (human)2e-170low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597181215GWAS1277289_Homega-3 polyunsaturated fatty acid measurement QTL GWAS1277289 (human)1e-11omega-3 polyunsaturated fatty acid measurement1109275216109275217Human
597154590GWAS1250664_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1250664 (human)4e-88blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597322518GWAS1418592_Hpalmitoyl dihydrosphingomyelin (d18:0/16:0) measurement QTL GWAS1418592 (human)1e-19palmitoyl dihydrosphingomyelin (d18:0/16:0) measurement1109274570109274571Human
597603091GWAS1659951_Hdrug use measurement, coronary artery disease QTL GWAS1659951 (human)5e-31drug use measurement, coronary artery disease1109274570109274571Human
597347095GWAS1443169_Hvitamin D measurement QTL GWAS1443169 (human)6e-16vitamin D measurement1109274570109274571Human
597154586GWAS1250660_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1250660 (human)9e-54very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
596956932GWAS1076451_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS1076451 (human)1e-15lipoprotein-associated phospholipase A(2) measurement1109275216109275217Human
407094480GWAS743456_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS743456 (human)9e-35response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)1109274570109274571Human
597105411GWAS1201485_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1201485 (human)0.0000005non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109274570109274571Human
597596938GWAS1653798_Hlow density lipoprotein cholesterol measurement QTL GWAS1653798 (human)4e-164low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597185284GWAS1281358_Hphospholipids:total lipids ratio QTL GWAS1281358 (human)1e-21Antithrombotic agent use measurement1109275684109275685Human
597184261GWAS1280335_Hphospholipids in IDL measurement QTL GWAS1280335 (human)1e-73phospholipids in IDL measurementblood intermediate density lipoprotein phospholipid level (CMO:0001574)1109274968109274969Human
597272377GWAS1368451_Homega-6 polyunsaturated fatty acid measurement QTL GWAS1368451 (human)3e-32omega-6 polyunsaturated fatty acid measurement1109275216109275217Human
406976736GWAS625712_Hblood protein measurement QTL GWAS625712 (human)7e-11blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274570109274571Human
597284666GWAS1380740_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1380740 (human)1e-20low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
596953905GWAS1073424_HSphingomyelin (d18:1/20:1, d18:2/20:0) measurement QTL GWAS1073424 (human)6e-09Sphingomyelin (d18:1/20:1, d18:2/20:0) measurement1109274570109274571Human
597165886GWAS1261960_Hvery low density lipoprotein cholesterol measurement QTL GWAS1261960 (human)7e-61very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597152572GWAS1248646_Hlow density lipoprotein particle size measurement QTL GWAS1248646 (human)4e-28low density lipoprotein particle size measurementblood low density lipoprotein particle diameter (CMO:0002693)1109274968109274969Human
597619501GWAS1676361_HAbdominal Aortic Aneurysm QTL GWAS1676361 (human)2e-18Abdominal Aortic Aneurysm1109274570109274571Human
597613357GWAS1670217_HHypercholesterolemia, family history QTL GWAS1670217 (human)3e-33blood HDL cholesterol amount (VT:0000184)1109274968109274969Human
597262125GWAS1358199_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1358199 (human)1e-23total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275684109275685Human
407094523GWAS743499_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS743499 (human)2e-27response to alcohol trait (VT:0010489)blood very low density lipoprotein cholesterol level (CMO:0000648)1109274570109274571Human
597223201GWAS1319275_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1319275 (human)1e-12free cholesterol measurement, low density lipoprotein cholesterol measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109275684109275685Human
597581604GWAS1638464_Hdrug use measurement, Hypercholesterolemia QTL GWAS1638464 (human)1e-248drug use measurement, Hypercholesterolemia1109274570109274571Human
597185315GWAS1281389_Hfree cholesterol in medium LDL measurement QTL GWAS1281389 (human)4e-101blood LDL cholesterol amount (VT:0000181)1109274968109274969Human
597293860GWAS1389934_Hlow density lipoprotein cholesterol measurement QTL GWAS1389934 (human)1e-410low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597023573GWAS1119647_Hlow density lipoprotein cholesterol measurement QTL GWAS1119647 (human)0.0000002low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109264661109264662Human
597023572GWAS1119646_Hlow density lipoprotein cholesterol measurement QTL GWAS1119646 (human)5e-77low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109264661109264662Human
407071874GWAS720850_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS720850 (human)5e-213low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597023575GWAS1119649_Hlow density lipoprotein cholesterol measurement QTL GWAS1119649 (human)3e-201low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
596961110GWAS1080629_Hdiet measurement QTL GWAS1080629 (human)7e-17diet measurementfood intake measurement (CMO:0000772)1109274570109274571Human
597102421GWAS1198495_Hmyocardial infarction QTL GWAS1198495 (human)8e-32myocardial infarction1109274968109274969Human
597023574GWAS1119648_Hlow density lipoprotein cholesterol measurement QTL GWAS1119648 (human)3e-85low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109264661109264662Human
597578589GWAS1635449_Hfamilial lipoprotein lipase deficiency QTL GWAS1635449 (human)1e-39familial lipoprotein lipase deficiencyblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
406968453GWAS617429_Htotal cholesterol measurement, diastolic blood pressure, triglyceride measurement, systolic blood pressure, hematocrit, ventricular rate measurement, glucose measurement, body mass index, high density lipoprotein cholesterol measurement QTL GWAS617429 (human)2e-51total cholesterol measurement, diastolic blood pressure, triglyceride measurement, systolic blood pressure, hematocrit, ventricular rate measurement, glucose measurement, body mass index, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109275684109275685Human
597252956GWAS1349030_Hapolipoprotein B measurement QTL GWAS1349030 (human)5e-83apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109256292109256293Human
597110609GWAS1206683_Htotal cholesterol measurement QTL GWAS1206683 (human)3e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)1109264661109264662Human
597110608GWAS1206682_Htotal cholesterol measurement QTL GWAS1206682 (human)1e-51total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275216109275217Human
407054474GWAS703450_HLDL cholesterol change measurement QTL GWAS703450 (human)2e-17blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597023577GWAS1119651_Hlow density lipoprotein cholesterol measurement QTL GWAS1119651 (human)0.000002high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
596953944GWAS1073463_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1073463 (human)2e-26coronary artery diseaseblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597197652GWAS1293726_Hlow density lipoprotein cholesterol measurement QTL GWAS1293726 (human)2e-90low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597023576GWAS1119650_Hlow density lipoprotein cholesterol measurement QTL GWAS1119650 (human)1e-28low density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597156697GWAS1252771_Homega-6 polyunsaturated fatty acid measurement QTL GWAS1252771 (human)3e-32omega-6 polyunsaturated fatty acid measurement1109275536109275538Human
597023578GWAS1119652_Hlow density lipoprotein cholesterol measurement QTL GWAS1119652 (human)2e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597157696GWAS1253770_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1253770 (human)8e-48triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597283650GWAS1379724_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1379724 (human)2e-209low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597607237GWAS1664097_Htotal cholesterol measurement QTL GWAS1664097 (human)7e-39total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597236550GWAS1332624_Hblood protein measurement QTL GWAS1332624 (human)2e-45blood protein measurementblood protein measurement (CMO:0000028)1109274968109274969Human
597596993GWAS1653853_Hlow density lipoprotein cholesterol measurement QTL GWAS1653853 (human)2e-94low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597155656GWAS1251730_Hcholesteryl ester measurement, intermediate density lipoprotein measurement QTL GWAS1251730 (human)3e-80blood lipid amount (VT:0003949)blood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597023605GWAS1119679_Hlow density lipoprotein cholesterol measurement QTL GWAS1119679 (human)1e-189low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597023604GWAS1119678_Hlow density lipoprotein cholesterol measurement QTL GWAS1119678 (human)2e-247low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597084020GWAS1180094_Hcoronary artery disease QTL GWAS1180094 (human)1e-62cholesterol in IDL measurement 1109274968109274969Human
597585788GWAS1642648_Hhigh density lipoprotein cholesterol measurement QTL GWAS1642648 (human)1e-59high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597023607GWAS1119681_Hlow density lipoprotein cholesterol measurement QTL GWAS1119681 (human)0.0000006low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597023606GWAS1119680_Hlow density lipoprotein cholesterol measurement QTL GWAS1119680 (human)1e-23low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597023601GWAS1119675_Hlow density lipoprotein cholesterol measurement QTL GWAS1119675 (human)5e-29low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597023600GWAS1119674_Hlow density lipoprotein cholesterol measurement QTL GWAS1119674 (human)4e-202low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597023603GWAS1119677_Hlow density lipoprotein cholesterol measurement QTL GWAS1119677 (human)3e-14blood triglyceride amount (VT:0002644)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597023602GWAS1119676_Hlow density lipoprotein cholesterol measurement QTL GWAS1119676 (human)0.000001coronary artery diseaseblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597075838GWAS1171912_Hprogranulin measurement QTL GWAS1171912 (human)6e-50progranulin measurement1109275216109275217Human
597023613GWAS1119687_Hlow density lipoprotein cholesterol measurement QTL GWAS1119687 (human)6e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597170032GWAS1266106_Hvery low density lipoprotein cholesterol measurement QTL GWAS1266106 (human)1e-22very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275684109275685Human
597023612GWAS1119686_Hlow density lipoprotein cholesterol measurement QTL GWAS1119686 (human)0.000002low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
406957229GWAS606205_Htotal cholesterol measurement QTL GWAS606205 (human)8e-22total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597023609GWAS1119683_Hlow density lipoprotein cholesterol measurement QTL GWAS1119683 (human)4e-227low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597184373GWAS1280447_Hfree cholesterol to total lipids in small VLDL percentage QTL GWAS1280447 (human)3e-41blood phospholipid amount (VT:0006084)1109274968109274969Human
597023608GWAS1119682_Hlow density lipoprotein cholesterol measurement QTL GWAS1119682 (human)6e-10choline measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597177205GWAS1273279_Halpha-1-antitrypsin measurement QTL GWAS1273279 (human)4e-14alpha-1-antitrypsin measurement1109275684109275685Human
597178230GWAS1274304_Hfour-jointed box protein 1 measurement QTL GWAS1274304 (human)2e-61four-jointed box protein 1 measurement1109274968109274969Human
597023611GWAS1119685_Hlow density lipoprotein cholesterol measurement QTL GWAS1119685 (human)3e-25low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597114744GWAS1210818_Hhigh density lipoprotein cholesterol measurement QTL GWAS1210818 (human)0.000006high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597023610GWAS1119684_Hlow density lipoprotein cholesterol measurement QTL GWAS1119684 (human)2e-202low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597206890GWAS1302964_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1302964 (human)5e-13Agents acting on the renin-angiotensin system use measurement1109272258109272259Human
407020721GWAS669697_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS669697 (human)2e-22triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597152611GWAS1248685_Htotal cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1248685 (human)3e-85total cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597166956GWAS1263030_Htotal lipids in small VLDL QTL GWAS1263030 (human)1e-26total lipids in small VLDL1109275684109275685Human
597173088GWAS1269162_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1269162 (human)8e-31triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597263201GWAS1359275_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1359275 (human)3e-34very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275684109275685Human
597023599GWAS1119673_Hlow density lipoprotein cholesterol measurement QTL GWAS1119673 (human)2e-245low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
407083198GWAS732174_Hlow density lipoprotein cholesterol measurement QTL GWAS732174 (human)2e-25low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597228390GWAS1324464_Hblood protein measurement QTL GWAS1324464 (human)6e-35blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274570109274571Human
597113704GWAS1209778_Hlow density lipoprotein cholesterol measurement QTL GWAS1209778 (human)1e-78low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597185180GWAS1281254_Hconcentration of large LDL particles measurement QTL GWAS1281254 (human)4e-105concentration of large LDL particles measurement1109274968109274969Human
597176988GWAS1273062_Hcomplement C1q tumor necrosis factor-related protein 1 measurement QTL GWAS1273062 (human)2e-530complement C1q tumor necrosis factor-related protein 1 measurement1109274968109274969Human
597157521GWAS1253595_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1253595 (human)5e-76very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597048977GWAS1145051_Hcardiovascular disease QTL GWAS1145051 (human)5e-24total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597165727GWAS1261801_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS1261801 (human)1e-113blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597027485GWAS1123559_Hlow density lipoprotein cholesterol measurement QTL GWAS1123559 (human)3e-247low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
596958876GWAS1078395_Homega-3 polyunsaturated fatty acid measurement QTL GWAS1078395 (human)5e-15omega-3 polyunsaturated fatty acid measurement1109275684109275685Human
597127836GWAS1223910_Hlow density lipoprotein cholesterol measurement QTL GWAS1223910 (human)5e-81low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597151388GWAS1247462_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1247462 (human)1e-18free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275684109275685Human
597155482GWAS1251556_Htotal cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1251556 (human)5e-122total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597185160GWAS1281234_Hfree cholesterol in very small VLDL measurement QTL GWAS1281234 (human)1e-50blood VLDL cholesterol amount (VT:0005144)1109274968109274969Human
597186185GWAS1282259_Htotal lipids in medium LDL QTL GWAS1282259 (human)5e-86total lipids in medium LDL1109274968109274969Human
597211787GWAS1307861_Hlow density lipoprotein cholesterol measurement QTL GWAS1307861 (human)1e-300low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109272630109272631Human
597123716GWAS1219790_Htotal cholesterol measurement QTL GWAS1219790 (human)3e-25total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597106305GWAS1202379_HHMG CoA reductase inhibitor use measurement QTL GWAS1202379 (human)2e-119total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597250688GWAS1346762_Hfamilial hyperlipidemia QTL GWAS1346762 (human)3e-57familial hyperlipidemia1109274968109274969Human
597169797GWAS1265871_Htotal cholesterol measurement QTL GWAS1265871 (human)4e-83blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
597174918GWAS1270992_Haortic stenosis QTL GWAS1270992 (human)2e-09aorta integrity trait (VT:0010602)1109274968109274969Human
597581503GWAS1638363_HHypercholesterolemia QTL GWAS1638363 (human)1e-323Hypercholesterolemia1109274968109274969Human
596958902GWAS1078421_Hmetabolic syndrome QTL GWAS1078421 (human)3e-08metabolic syndrome1109271097109271098Human
597258938GWAS1355012_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1355012 (human)4e-55very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109274968109274969Human
597595837GWAS1652697_Hdrug use measurement, Hypercholesterolemia QTL GWAS1652697 (human)6e-297drug use measurement, Hypercholesterolemia1109274968109274969Human
597174971GWAS1271045_Hapolipoprotein B measurement QTL GWAS1271045 (human)7e-88apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109274968109274969Human
597151411GWAS1247485_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS1247485 (human)1e-36triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597283516GWAS1379590_Htriglycerides in large LDL measurement QTL GWAS1379590 (human)8e-70blood LDL triglyceride amount (VT:0010699)1109275216109275217Human
597236414GWAS1332488_Htotal cholesterol measurement QTL GWAS1332488 (human)2e-57total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597187248GWAS1283322_Hfree cholesterol in very large HDL measurement QTL GWAS1283322 (human)1e-27blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597250736GWAS1346810_Hfamilial hyperlipidemia QTL GWAS1346810 (human)9e-39familial hyperlipidemia1109274968109274969Human
597300913GWAS1396987_Hapolipoprotein A 1 measurement, apolipoprotein B measurement QTL GWAS1396987 (human)7e-124apolipoprotein A 1 measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109274968109274969Human
597155516GWAS1251590_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS1251590 (human)4e-120blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597214901GWAS1310975_He-selectin measurement QTL GWAS1310975 (human)2e-18four-jointed box protein 1 measurement1109274968109274969Human
597158564GWAS1254638_Hapolipoprotein B measurement QTL GWAS1254638 (human)8e-121apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109274968109274969Human
597165741GWAS1261815_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1261815 (human)3e-10cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275536109275538Human
597223087GWAS1319161_Htotal cholesterol measurement QTL GWAS1319161 (human)2e-21total cholesterol measurementblood total cholesterol level (CMO:0000051)1109258499109258500Human
597288609GWAS1384683_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1384683 (human)3e-72free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597187234GWAS1283308_Hfree cholesterol to total lipids in very small VLDL percentage QTL GWAS1283308 (human)4e-47blood VLDL cholesterol amount (VT:0005144)1109274968109274969Human
597580449GWAS1637309_Hmetabolic disease QTL GWAS1637309 (human)1e-65metabolic diseaseblood total cholesterol level (CMO:0000051)1109274968109274969Human
597118678GWAS1214752_Hblood protein measurement QTL GWAS1214752 (human)9e-38blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
597285597GWAS1381671_Hcardiovascular disease QTL GWAS1381671 (human)5e-23cardiovascular disease1109275684109275685Human
597604059GWAS1660919_Htotal cholesterol measurement QTL GWAS1660919 (human)3e-194total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597264095GWAS1360169_Hgranulins measurement QTL GWAS1360169 (human)1e-95granulins measurement1109272630109272631Human
597152479GWAS1248553_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1248553 (human)2e-114low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597148383GWAS1244457_Hantihyperlipidemic drug use measurement QTL GWAS1244457 (human)7e-206antihyperlipidemic drug use measurement1109274968109274969Human
597607127GWAS1663987_Htotal cholesterol measurement QTL GWAS1663987 (human)4e-110total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597609171GWAS1666031_HHyperlipidemia QTL GWAS1666031 (human)8e-68Hyperlipidemia1109274968109274969Human
597155526GWAS1251600_Hlow density lipoprotein cholesterol measurement QTL GWAS1251600 (human)6e-99low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
596953799GWAS1073318_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS1073318 (human)1e-28alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597233359GWAS1329433_Hblood protein measurement QTL GWAS1329433 (human)1e-67blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274570109274571Human
596952771GWAS1072290_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS1072290 (human)1e-17blood cholesterol amount (VT:0000180)blood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597156559GWAS1252633_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1252633 (human)2e-27triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597283520GWAS1379594_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1379594 (human)3e-158low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597257920GWAS1353994_Htotal cholesterol measurement QTL GWAS1353994 (human)6e-137total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597185219GWAS1281293_Hcholesterol in very large HDL measurement QTL GWAS1281293 (human)1e-21cholesterol in very large HDL measurement 1109274968109274969Human
597259973GWAS1356047_Htotal cholesterol measurement QTL GWAS1356047 (human)2e-903total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597153481GWAS1249555_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1249555 (human)3e-31cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597263046GWAS1359120_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1359120 (human)4e-35free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597165817GWAS1261891_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1261891 (human)2e-48very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109275684109275685Human
597167866GWAS1263940_Hpolyunsaturated fatty acid measurement QTL GWAS1263940 (human)7e-34milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)1109275536109275538Human
597157626GWAS1253700_Homega-3 polyunsaturated fatty acid measurement QTL GWAS1253700 (human)2e-14omega-3 polyunsaturated fatty acid measurement1109275216109275217Human
407024940GWAS673916_Htotal cholesterol measurement QTL GWAS673916 (human)6e-131total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597232374GWAS1328448_Hlow density lipoprotein cholesterol measurement QTL GWAS1328448 (human)2e-72low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597154531GWAS1250605_Hfree cholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1250605 (human)3e-26coronary artery diseaseblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274570109274571Human
597262063GWAS1358137_Hhigh density lipoprotein cholesterol measurement QTL GWAS1358137 (human)1e-97high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597152481GWAS1248555_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1248555 (human)2e-130low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
596957923GWAS1077442_Hresponse to darapladib, lipoprotein-associated phospholipase A(2) change measurement QTL GWAS1077442 (human)8e-09response to darapladib, lipoprotein-associated phospholipase A(2) change measurement1109274570109274571Human
597152495GWAS1248569_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1248569 (human)2e-12blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597326560GWAS1422634_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1422634 (human)4e-1189non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109274968109274969Human
597186276GWAS1282350_Hcholesterol in medium VLDL measurement QTL GWAS1282350 (human)2e-78cholesterol in medium VLDL measurement 1109274968109274969Human
597269223GWAS1365297_Hlow density lipoprotein cholesterol measurement QTL GWAS1365297 (human)1e-2031low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597322469GWAS1418543_Hlow density lipoprotein cholesterol measurement QTL GWAS1418543 (human)2e-92low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597295647GWAS1391721_Hsphingomyelin measurement QTL GWAS1391721 (human)9e-27sphingomyelin measurement1109274968109274969Human
597105169GWAS1201243_Htotal cholesterol measurement QTL GWAS1201243 (human)0.000005total cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597024285GWAS1120359_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120359 (human)5e-15omega-3 polyunsaturated fatty acid measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109275684109275685Human
597581333GWAS1638193_Htotal cholesterol measurement QTL GWAS1638193 (human)2e-26total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274623109274624Human
597595669GWAS1652529_HHypercholesterolemia QTL GWAS1652529 (human)3e-48Hypercholesterolemia1109274968109274969Human
597530129GWAS1626203_Hvitamin D measurement QTL GWAS1626203 (human)2e-17vitamin D measurement1109274570109274571Human
597024283GWAS1120357_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120357 (human)4e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109275684109275685Human
597591569GWAS1648429_Hcoronary atherosclerosis QTL GWAS1648429 (human)3e-85coronary atherosclerosisblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597258774GWAS1354848_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1354848 (human)6e-77non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109275216109275217Human
597595663GWAS1652523_HHypercholesterolemia QTL GWAS1652523 (human)2e-31Hypercholesterolemia1109274968109274969Human
597153286GWAS1249360_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1249360 (human)6e-32very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597174794GWAS1270868_Hdocosahexaenoic acid measurement QTL GWAS1270868 (human)2e-16fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)1109275216109275217Human
597152259GWAS1248333_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1248333 (human)1e-11cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275536109275538Human
597151234GWAS1247308_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1247308 (human)2e-121low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109274968109274969Human
597247502GWAS1343576_Hlow density lipoprotein cholesterol measurement QTL GWAS1343576 (human)1e-139low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109264212109264213Human
597323267GWAS1419341_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1419341 (human)7e-764non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109274968109274969Human
597284354GWAS1380428_Hprogranulin measurement QTL GWAS1380428 (human)1e-18progranulin measurement1109275536109275538Human
597322245GWAS1418319_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1418319 (human)2e-52non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109274968109274969Human
597619263GWAS1676123_Htotal cholesterol measurement QTL GWAS1676123 (human)1e-208total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597112373GWAS1208447_Hlow density lipoprotein cholesterol measurement QTL GWAS1208447 (human)3e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109264661109264662Human
596958774GWAS1078293_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS1078293 (human)2e-15triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597112372GWAS1208446_Hlow density lipoprotein cholesterol measurement QTL GWAS1208446 (human)6e-65low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597199423GWAS1295497_Hglomerular filtration rate QTL GWAS1295497 (human)3e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)1109275684109275685Human
596959804GWAS1079323_Hglomerular filtration rate QTL GWAS1079323 (human)3e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)1109275684109275685Human
597348918GWAS1444992_Hcoronary artery disease QTL GWAS1444992 (human)2e-25coronary artery disease1109274968109274969Human
597308983GWAS1405057_Hcreatinine measurement QTL GWAS1405057 (human)2e-30creatinine measurementblood creatinine measurement (CMO:0000767)1109274570109274571Human
597283380GWAS1379454_Hphospholipids in medium HDL measurement QTL GWAS1379454 (human)2e-15blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
407152118GWAS801094_Hesterified cholesterol measurement QTL GWAS801094 (human)4e-10esterified cholesterol measurement1109275684109275685Human
597258797GWAS1354871_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1354871 (human)1e-69triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597155362GWAS1251436_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1251436 (human)2e-69free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597580328GWAS1637188_Hlow density lipoprotein cholesterol measurement QTL GWAS1637188 (human)1e-323low density lipoprotein cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597098030GWAS1194104_Hmyocardial infarction QTL GWAS1194104 (human)1e-15myocardial infarction1109274570109274571Human
596953644GWAS1073163_Htriglycerides to total lipids in IDL percentage QTL GWAS1073163 (human)3e-14blood triglyceride amount (VT:0002644)1109274968109274969Human
596964904GWAS1084423_Hcoronary artery disease QTL GWAS1084423 (human)2e-25coronary artery disease1109274968109274969Human
597187108GWAS1283182_Hphospholipids:total lipids ratio QTL GWAS1283182 (human)2e-43very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
596958763GWAS1078282_Hangina pectoris QTL GWAS1078282 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)1109274570109274571Human
597295653GWAS1391727_Hsphingomyelin measurement QTL GWAS1391727 (human)4e-17sphingomyelin measurement1109274968109274969Human
597292633GWAS1388707_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1388707 (human)2e-56non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109274968109274969Human
597151319GWAS1247393_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1247393 (human)4e-121free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
406970752GWAS619728_Htotal cholesterol measurement, C-reactive protein measurement QTL GWAS619728 (human)6e-132total cholesterol measurement, C-reactive protein measurementblood C-reactive protein level (CMO:0003160)1109275684109275685Human
597327453GWAS1423527_Hlow density lipoprotein cholesterol measurement QTL GWAS1423527 (human)1e-105low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597186128GWAS1282202_Htriglycerides to total lipids in very small VLDL percentage QTL GWAS1282202 (human)5e-18blood VLDL triglyceride amount (VT:0010700)1109274968109274969Human
406928776GWAS577752_Hapolipoprotein B measurement QTL GWAS577752 (human)4e-374apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109264661109264662Human
597039711GWAS1135785_Hapolipoprotein A 1 measurement QTL GWAS1135785 (human)1e-78apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)1109274968109274969Human
597184082GWAS1280156_Htotal lipids in very small VLDL measurement QTL GWAS1280156 (human)4e-41total lipids in very small VLDL measurement1109274968109274969Human
597181011GWAS1277085_Hvery low density lipoprotein cholesterol measurement QTL GWAS1277085 (human)5e-52very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597185107GWAS1281181_Hfree cholesterol in small LDL measurement QTL GWAS1281181 (human)5e-120blood LDL cholesterol amount (VT:0000181)1109274968109274969Human
597182036GWAS1278110_Hgranulins measurement QTL GWAS1278110 (human)4e-864granulins measurement1109274968109274969Human
597038680GWAS1134754_Hhigh density lipoprotein cholesterol measurement QTL GWAS1134754 (human)2e-36high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597186120GWAS1282194_Hfree cholesterol to total lipids in medium VLDL percentage QTL GWAS1282194 (human)2e-38blood VLDL cholesterol amount (VT:0005144)1109274968109274969Human
407028123GWAS677099_Hlow density lipoprotein cholesterol measurement QTL GWAS677099 (human)2e-42Abdominal Aortic Aneurysmblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597177922GWAS1273996_Hphospholipids in small VLDL measurement QTL GWAS1273996 (human)8e-60phospholipids in small VLDL measurementblood very low density lipoprotein phospholipid level (CMO:0001571)1109274968109274969Human
597159498GWAS1255572_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1255572 (human)5e-56very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109274968109274969Human
597153354GWAS1249428_Hphospholipid measurement, intermediate density lipoprotein measurement QTL GWAS1249428 (human)4e-99phospholipid measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597310021GWAS1406095_HHMG CoA reductase inhibitor use measurement QTL GWAS1406095 (human)2e-145HMG CoA reductase inhibitor use measurement1109274968109274969Human
596954740GWAS1074259_Hcholesterol in IDL measurement QTL GWAS1074259 (human)1e-62cholesterol in IDL measurement 1109274968109274969Human
597326457GWAS1422531_Hcoronary artery disease QTL GWAS1422531 (human)0.0000004coronary artery disease1109275684109275685Human
597259901GWAS1355975_Hvery low density lipoprotein cholesterol measurement QTL GWAS1355975 (human)7e-66very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
407093670GWAS742646_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS742646 (human)2e-193response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)1109274570109274571Human
597110386GWAS1206460_Htotal cholesterol measurement QTL GWAS1206460 (human)7e-54total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597178994GWAS1275068_Hprotein measurement QTL GWAS1275068 (human)0.0000002protein measurement1109258921109258922Human
597341808GWAS1437882_HAbdominal Aortic Aneurysm QTL GWAS1437882 (human)1e-18Abdominal Aortic Aneurysm1109274968109274969Human
597185140GWAS1281214_Hcholesterol in small LDL measurement QTL GWAS1281214 (human)3e-98cholesterol in small LDL measurement 1109274968109274969Human
597026427GWAS1122501_Hlow density lipoprotein cholesterol measurement QTL GWAS1122501 (human)1e-167low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597252713GWAS1348787_Hapolipoprotein B measurement QTL GWAS1348787 (human)2e-57apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109258723109258724Human
597286505GWAS1382579_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1382579 (human)3e-213low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597154407GWAS1250481_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1250481 (human)3e-22high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597031527GWAS1127601_Hlow density lipoprotein cholesterol measurement QTL GWAS1127601 (human)1e-36low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597188202GWAS1284276_Hcholesterol to total lipids in medium VLDL percentage QTL GWAS1284276 (human)2e-30cholesterol to total lipids in medium VLDL percentage 1109274968109274969Human
597236331GWAS1332405_Hcalcium measurement QTL GWAS1332405 (human)9e-10calcium measurementblood calcium level (CMO:0000502)1109275684109275685Human
407085488GWAS734464_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS734464 (human)7e-51low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
596960871GWAS1080390_Hglomerular filtration rate QTL GWAS1080390 (human)1e-30glomerular filtration rateglomerular filtration rate (CMO:0000490)1109275684109275685Human
597186156GWAS1282230_Hfree cholesterol in LDL measurement QTL GWAS1282230 (human)3e-97blood LDL cholesterol amount (VT:0000181)1109274968109274969Human
407148976GWAS797952_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS797952 (human)1e-12free cholesterol measurement, low density lipoprotein cholesterol measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109275684109275685Human
597165677GWAS1261751_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1261751 (human)2e-82very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597172846GWAS1268920_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1268920 (human)4e-31very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
596970082GWAS1089601_Hfree cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1089601 (human)1e-12free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597246561GWAS1342635_Hlow density lipoprotein cholesterol measurement QTL GWAS1342635 (human)5e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109250455109250456Human
597165664GWAS1261738_Hvery low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1261738 (human)3e-21very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109275684109275685Human
597391969GWAS1488043_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS1488043 (human)5e-20sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109270888109270889Human
597206626GWAS1302700_Hliver fibrosis measurement QTL GWAS1302700 (human)4e-12liver integrity trait (VT:0010547)liver fibrotic lesion measurement (CMO:0001088)1109274241109274243Human
597093996GWAS1190070_Hcoronary artery disease QTL GWAS1190070 (human)2e-23coronary artery disease1109274570109274571Human
597184101GWAS1280175_Hphospholipids in large LDL measurement QTL GWAS1280175 (human)2e-84phospholipids in large LDL measurementblood low density lipoprotein phospholipid level (CMO:0001568)1109274968109274969Human
597155433GWAS1251507_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1251507 (human)4e-109total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597602714GWAS1659574_Hdrug use measurement, myocardial infarction QTL GWAS1659574 (human)9e-18drug use measurement, myocardial infarction1109274968109274969Human
597112211GWAS1208285_Hlow density lipoprotein cholesterol measurement QTL GWAS1208285 (human)3e-67low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597152146GWAS1248220_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS1248220 (human)9e-101blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597272991GWAS1369065_Htotal cholesterol measurement QTL GWAS1369065 (human)4e-64total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275216109275217Human
597289360GWAS1385434_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1385434 (human)3e-24very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274570109274571Human
597103005GWAS1199079_Hmyocardial infarction QTL GWAS1199079 (human)6e-18myocardial infarction1109274968109274969Human
597229972GWAS1326046_Hblood protein measurement QTL GWAS1326046 (human)4e-45blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109275216109275217Human
597586318GWAS1643178_HHypercholesterolemia, family history QTL GWAS1643178 (human)2e-31Hypercholesterolemia, family history1109274570109274571Human
597592463GWAS1649323_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649323 (human)4e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597288334GWAS1384408_Hangina pectoris QTL GWAS1384408 (human)7e-23angina pectoris1109275684109275685Human
597184896GWAS1280970_Hcholesteryl esters to total lipids in small VLDL percentage QTL GWAS1280970 (human)2e-43blood lipid amount (VT:0003949)1109274570109274571Human
597307778GWAS1403852_Hcoronary artery disease QTL GWAS1403852 (human)1e-57coronary artery disease1109274968109274969Human
597262721GWAS1358795_Hlow density lipoprotein cholesterol measurement QTL GWAS1358795 (human)2e-31low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597026190GWAS1122264_Hhigh density lipoprotein cholesterol measurement QTL GWAS1122264 (human)8e-12heart integrity trait (VT:0010757)blood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597288325GWAS1384399_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1384399 (human)1e-13triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597184900GWAS1280974_Htriglycerides to total lipids in medium LDL percentage QTL GWAS1280974 (human)3e-19blood lipid amount (VT:0003949)1109274968109274969Human
597182906GWAS1278980_Hsodium-coupled monocarboxylate transporter 1 measurement QTL GWAS1278980 (human)5e-14sodium-coupled monocarboxylate transporter 1 measurement1109275684109275685Human
597112244GWAS1208318_Hlow density lipoprotein cholesterol measurement QTL GWAS1208318 (human)8e-81low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597157300GWAS1253374_Htotal cholesterol measurement QTL GWAS1253374 (human)2e-107total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
597614008GWAS1670868_HHypercholesterolemia, family history QTL GWAS1670868 (human)9e-31Hypercholesterolemia, family history1109274968109274969Human
597027260GWAS1123334_Hhigh density lipoprotein cholesterol measurement QTL GWAS1123334 (human)1e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597621175GWAS1678035_Hperipheral vascular disease QTL GWAS1678035 (human)1e-11peripheral vascular disease1109274570109274571Human
597427638GWAS1523712_Hurate measurement QTL GWAS1523712 (human)3e-08urate measurementblood uric acid level (CMO:0000501)1109274570109274571Human
597183923GWAS1279997_Hcholesterol in medium LDL measurement QTL GWAS1279997 (human)3e-84cholesterol in medium LDL measurement 1109274968109274969Human
597173684GWAS1269758_Hsphingomyelin measurement QTL GWAS1269758 (human)3e-50sphingomyelin measurement1109274968109274969Human
597285300GWAS1381374_Hcholesterol esters in large HDL measurement QTL GWAS1381374 (human)1e-09cholesterol esters in large HDL measurement1109274968109274969Human
597286326GWAS1382400_Hfatty acid measurement QTL GWAS1382400 (human)7e-22fatty acid measurement1109275216109275217Human
597050790GWAS1146864_Hserum metabolite measurement QTL GWAS1146864 (human)9e-11serum metabolite measurement1109274570109274571Human
597592494GWAS1649354_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649354 (human)5e-131high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597258667GWAS1354741_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1354741 (human)4e-66very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood total cholesterol level (CMO:0000051)1109274968109274969Human
597273002GWAS1369076_Htotal cholesterol measurement QTL GWAS1369076 (human)4e-80total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275216109275217Human
597621163GWAS1678023_Hperipheral vascular disease QTL GWAS1678023 (human)2e-11peripheral vascular diseaseblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597108129GWAS1204203_Htotal cholesterol measurement QTL GWAS1204203 (human)1e-65total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597183906GWAS1279980_Hcholesterol in large LDL measurement QTL GWAS1279980 (human)3e-91cholesterol in large LDL measurement 1109274968109274969Human
597027242GWAS1123316_Hlow density lipoprotein cholesterol measurement QTL GWAS1123316 (human)3e-30low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597608926GWAS1665786_HHypercholesterolemia QTL GWAS1665786 (human)1e-108Hypercholesterolemia1109274968109274969Human
597044695GWAS1140769_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS1140769 (human)2e-19sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109254135109254136Human
597186009GWAS1282083_Htotal lipids in lipoprotein particles measurement QTL GWAS1282083 (human)3e-38blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
597309912GWAS1405986_HBeta blocking agent use measurement QTL GWAS1405986 (human)2e-11Beta blocking agent use measurement1109272258109272259Human
597141972GWAS1238046_Htotal cholesterol measurement QTL GWAS1238046 (human)7e-17diet measurementfood intake measurement (CMO:0000772)1109274570109274571Human
597174747GWAS1270821_Hfree cholesterol to total lipids in large HDL percentage QTL GWAS1270821 (human)6e-52blood HDL cholesterol amount (VT:0000184)1109274968109274969Human
597285341GWAS1381415_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1381415 (human)1e-204low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597595610GWAS1652470_Hdrug use measurement, Hypercholesterolemia QTL GWAS1652470 (human)1e-37drug use measurement, Hypercholesterolemia1109274570109274571Human
597158355GWAS1254429_Hvery low density lipoprotein cholesterol measurement QTL GWAS1254429 (human)2e-72very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597165532GWAS1261606_Hlipoprotein measurement, phospholipid measurement QTL GWAS1261606 (human)1e-23lipoprotein measurement, phospholipid measurementblood lipoprotein measurement (CMO:0002690)1109275536109275538Human
407131650GWAS780626_Hlow density lipoprotein cholesterol measurement QTL GWAS780626 (human)2e-22triglyceride measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109275216109275217Human
597050846GWAS1146920_Hserum metabolite measurement QTL GWAS1146920 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)1109274570109274571Human
597165524GWAS1261598_Htotal cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1261598 (human)3e-134total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597044696GWAS1140770_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS1140770 (human)5e-146sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597326292GWAS1422366_Hcoronary artery disease QTL GWAS1422366 (human)0.000003coronary artery disease1109274968109274969Human
597166550GWAS1262624_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1262624 (human)2e-185low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
407095820GWAS744796_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS744796 (human)1e-45response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)1109274570109274571Human
597274070GWAS1370144_Hlow density lipoprotein cholesterol measurement QTL GWAS1370144 (human)2e-177low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597326293GWAS1422367_Hcoronary artery disease QTL GWAS1422367 (human)0.000008coronary artery disease1109275684109275685Human
597165512GWAS1261586_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS1261586 (human)5e-72blood lipid amount (VT:0003949)blood total cholesterol level (CMO:0000051)1109274968109274969Human
597027270GWAS1123344_Hlow density lipoprotein cholesterol measurement QTL GWAS1123344 (human)2e-39low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597027267GWAS1123341_Hlow density lipoprotein cholesterol measurement QTL GWAS1123341 (human)2e-28low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597259727GWAS1355801_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1355801 (human)1e-32triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597226959GWAS1323033_Hblood protein measurement QTL GWAS1323033 (human)9e-230blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
597595593GWAS1652453_Hdrug use measurement, Hypercholesterolemia QTL GWAS1652453 (human)9e-24drug use measurement, Hypercholesterolemia1109274968109274969Human
597032397GWAS1128471_Htotal cholesterol measurement QTL GWAS1128471 (human)1e-29total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597607878GWAS1664738_Htotal cholesterol measurement QTL GWAS1664738 (human)2e-123total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597252547GWAS1348621_Hapolipoprotein B measurement QTL GWAS1348621 (human)2e-205apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109264212109264213Human
597184962GWAS1281036_Hintermediate density lipoprotein measurement QTL GWAS1281036 (human)2e-63intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597181890GWAS1277964_Hpolyunsaturated fatty acid measurement QTL GWAS1277964 (human)1e-25milk polyunsaturated fatty acid amount (VT:0010374)blood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597206468GWAS1302542_Hvitamin D measurement QTL GWAS1302542 (human)8e-19vitamin D measurement1109274570109274571Human
407025182GWAS674158_Hlow density lipoprotein cholesterol measurement QTL GWAS674158 (human)1e-170low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597024245GWAS1120319_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120319 (human)2e-15triglyceride measurement, high density lipoprotein cholesterol measurementblood triglyceride level (CMO:0000118)1109274570109274571Human
597024244GWAS1120318_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120318 (human)4e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109264661109264662Human
407094818GWAS743794_Hperipheral arterial disease QTL GWAS743794 (human)3e-11peripheral arterial disease1109274570109274571Human
597263864GWAS1359938_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1359938 (human)2e-37cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597024247GWAS1120321_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120321 (human)3e-15clinical and behavioural ideal cardiovascular healthblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597188090GWAS1284164_Hlow density lipoprotein cholesterol measurement QTL GWAS1284164 (human)8e-91low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597024246GWAS1120320_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120320 (human)6e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597250554GWAS1346628_Hfamilial hyperlipidemia QTL GWAS1346628 (human)4e-16familial hyperlipidemia1109274570109274571Human
597174781GWAS1270855_Hlow density lipoprotein cholesterol measurement QTL GWAS1270855 (human)4e-97low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597024243GWAS1120317_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120317 (human)2e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109264661109264662Human
597592568GWAS1649428_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649428 (human)3e-137high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597591545GWAS1648405_Hcoronary atherosclerosis QTL GWAS1648405 (human)2e-11coronary atherosclerosis1109274570109274571Human
597259774GWAS1355848_Hvery low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1355848 (human)2e-55very low density lipoprotein cholesterol measurement, phospholipid measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597235184GWAS1331258_Hblood protein measurement QTL GWAS1331258 (human)1e-53blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274570109274571Human
597258738GWAS1354812_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1354812 (human)4e-16chylomicron measurement, very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597155323GWAS1251397_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1251397 (human)2e-116blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597024249GWAS1120323_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120323 (human)3e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109275216109275217Human
597047803GWAS1143877_Hmetabolic syndrome QTL GWAS1143877 (human)3e-08metabolic syndrome1109271097109271098Human
597024248GWAS1120322_Hhigh density lipoprotein cholesterol measurement QTL GWAS1120322 (human)5e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597143015GWAS1239089_Htotal cholesterol measurement QTL GWAS1239089 (human)3e-79total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275536109275538Human
597259752GWAS1355826_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1355826 (human)2e-34triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597263852GWAS1359926_Hvery low density lipoprotein cholesterol measurement QTL GWAS1359926 (human)2e-53very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597165549GWAS1261623_Hlow density lipoprotein cholesterol measurement QTL GWAS1261623 (human)3e-114low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597073377GWAS1169451_Hcoronary artery disease QTL GWAS1169451 (human)2e-57coronary artery disease1109274968109274969Human
597186019GWAS1282093_Hphospholipids in small LDL measurement QTL GWAS1282093 (human)1e-136blood LDL phospholipid amount (VT:0010505)1109274968109274969Human
597592544GWAS1649404_Hhigh density lipoprotein cholesterol measurement QTL GWAS1649404 (human)2e-95high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597619168GWAS1676028_Haortic aneurysm QTL GWAS1676028 (human)9e-14aortic aneurysm1109274570109274571Human
596960747GWAS1080266_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1080266 (human)2e-23blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597208348GWAS1304422_HBeta blocking agent use measurement QTL GWAS1304422 (human)8e-09Beta blocking agent use measurement1109272258109272259Human
597041427GWAS1137501_Hserum metabolite measurement QTL GWAS1137501 (human)5e-08serum metabolite measurement1109274570109274571Human
597034256GWAS1130330_Hheel bone mineral density QTL GWAS1130330 (human)2e-10heel bone mineral densitybone mineral density (CMO:0001226)1109275216109275217Human
597042463GWAS1138537_Htotal cholesterol measurement QTL GWAS1138537 (human)9e-17total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597231888GWAS1327962_Hblood protein measurement QTL GWAS1327962 (human)3e-46blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
406917836GWAS566812_Hlow density lipoprotein cholesterol measurement QTL GWAS566812 (human)2e-336low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109272258109272259Human
597174549GWAS1270623_Hcholesteryl esters to total lipids in large HDL percentage QTL GWAS1270623 (human)6e-17cholesteryl esters to total lipids in large HDL percentage 1109274968109274969Human
406917839GWAS566815_Hlow density lipoprotein cholesterol measurement QTL GWAS566815 (human)3e-40low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109255141109255142Human
597083417GWAS1179491_Hprotein measurement QTL GWAS1179491 (human)9e-32protein measurement1109274570109274571Human
597217544GWAS1313618_Htotal cholesterol measurement QTL GWAS1313618 (human)1e-300total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597286152GWAS1382226_Hfatty acid change measurement QTL GWAS1382226 (human)1e-20fatty acid change measurement1109274570109274571Human
597290252GWAS1386326_Hcoronary artery disease QTL GWAS1386326 (human)4e-08coronary artery disease1109254135109254136Human
597302543GWAS1398617_Hgranulins measurement QTL GWAS1398617 (human)6e-16granulins measurement1109274968109274969Human
597179648GWAS1275722_Hinsulin-like growth factor-binding protein 1 measurement QTL GWAS1275722 (human)6e-16insulin-like growth factor-binding protein 1 measurement1109274241109274243Human
597162255GWAS1258329_Hdocosahexaenoic acid measurement QTL GWAS1258329 (human)2e-19fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)1109275216109275217Human
596975887GWAS1095406_Hangina pectoris QTL GWAS1095406 (human)7e-23angina pectoris1109275684109275685Human
597325062GWAS1421136_Hlow density lipoprotein cholesterol measurement QTL GWAS1421136 (human)3e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597353734GWAS1449808_Hbody height QTL GWAS1449808 (human)7e-80body height (VT:0001253)body height (CMO:0000106)1109274570109274571Human
597162248GWAS1258322_Hlow density lipoprotein cholesterol measurement QTL GWAS1258322 (human)5e-124low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597185799GWAS1281873_Htotal lipids in medium VLDL QTL GWAS1281873 (human)1e-40total lipids in medium VLDL1109274968109274969Human
597096759GWAS1192833_Htotal cholesterol measurement QTL GWAS1192833 (human)3e-77total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
407096033GWAS745009_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS745009 (human)6e-49response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)1109274570109274571Human
596972854GWAS1092373_Hvitamin D measurement QTL GWAS1092373 (human)6e-16vitamin D measurement1109274570109274571Human
597165371GWAS1261445_Hsphingomyelin measurement QTL GWAS1261445 (human)4e-62sphingomyelin measurement1109274968109274969Human
597162290GWAS1258364_Hlinoleic acid measurement QTL GWAS1258364 (human)2e-27linoleic acid measurementblood free fatty acids level (CMO:0000117)1109275536109275538Human
597153073GWAS1249147_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1249147 (human)3e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597180734GWAS1276808_Hgroup XIIB secretory phospholipase A2-like protein measurement QTL GWAS1276808 (human)8e-193group XIIB secretory phospholipase A2-like protein measurement1109274968109274969Human
407006952GWAS655928_Hcoronary artery disease QTL GWAS655928 (human)2e-25coronary artery disease1109274968109274969Human
597274931GWAS1371005_Hdocosahexaenoic acid measurement QTL GWAS1371005 (human)7e-20fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)1109275684109275685Human
596963641GWAS1083160_Hcoronary artery disease QTL GWAS1083160 (human)0.0000002coronary artery disease1109275216109275217Human
597580080GWAS1636940_Hlow density lipoprotein cholesterol measurement QTL GWAS1636940 (human)1e-323low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109272630109272631Human
597586222GWAS1643082_Hcreatinine measurement QTL GWAS1643082 (human)2e-12blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597165353GWAS1261427_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS1261427 (human)3e-82blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597153060GWAS1249134_Hlow density lipoprotein cholesterol measurement QTL GWAS1249134 (human)1e-132low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597166380GWAS1262454_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1262454 (human)5e-57very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597042467GWAS1138541_Hlow density lipoprotein cholesterol measurement QTL GWAS1138541 (human)2e-26coronary artery diseaseblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597321004GWAS1417078_Hstearoyl sphingomyelin (d18:1/18:0) measurement QTL GWAS1417078 (human)1e-11blood phospholipid amount (VT:0006084)1109274968109274969Human
597199136GWAS1295210_Hglomerular filtration rate QTL GWAS1295210 (human)8e-24glomerular filtration rateglomerular filtration rate (CMO:0000490)1109275684109275685Human
597255456GWAS1351530_Htotal cholesterol measurement QTL GWAS1351530 (human)6e-105total cholesterol measurementblood total cholesterol level (CMO:0000051)1109264212109264213Human
597156142GWAS1252216_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS1252216 (human)4e-127low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597111085GWAS1207159_Htotal cholesterol measurement QTL GWAS1207159 (human)1e-63total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597159209GWAS1255283_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1255283 (human)5e-21cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597041494GWAS1137568_Hserum metabolite measurement QTL GWAS1137568 (human)2e-08serum metabolite measurement1109274570109274571Human
597282139GWAS1378213_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS1378213 (human)1e-67triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597250398GWAS1346472_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS1346472 (human)1e-15lipoprotein-associated phospholipase A(2) measurement1109275216109275217Human
597142877GWAS1238951_Htotal cholesterol measurement QTL GWAS1238951 (human)3e-32total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
596957535GWAS1077054_Hlow density lipoprotein cholesterol measurement QTL GWAS1077054 (human)3e-15clinical and behavioural ideal cardiovascular healthblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597157211GWAS1253285_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1253285 (human)2e-50blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
597152090GWAS1248164_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1248164 (human)2e-137low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597213525GWAS1309599_Hhigh density lipoprotein cholesterol measurement QTL GWAS1309599 (human)4e-29high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109275536109275538Human
597165398GWAS1261472_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1261472 (human)2e-70very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597153094GWAS1249168_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1249168 (human)2e-76phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597281101GWAS1377175_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1377175 (human)3e-13phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109275216109275217Human
597261645GWAS1357719_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1357719 (human)4e-30very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597258572GWAS1354646_Hfatty acid measurement QTL GWAS1354646 (human)2e-16fatty acid measurement1109275536109275538Human
597607753GWAS1664613_Htotal cholesterol measurement QTL GWAS1664613 (human)6e-68total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597312845GWAS1408919_Htotal cholesterol measurement QTL GWAS1408919 (human)1e-286total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
596952396GWAS1071915_Hremnant cholesterol measurement QTL GWAS1071915 (human)2e-61remnant cholesterol measurement1109274968109274969Human
596969805GWAS1089324_Hesterified cholesterol measurement QTL GWAS1089324 (human)4e-10esterified cholesterol measurement1109275684109275685Human
597253440GWAS1349514_Hapolipoprotein B measurement QTL GWAS1349514 (human)2e-35apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109258499109258500Human
597092685GWAS1188759_Hlow density lipoprotein cholesterol measurement QTL GWAS1188759 (human)1e-28low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275216109275217Human
597121355GWAS1217429_Htotal cholesterol measurement QTL GWAS1217429 (human)2e-10appendicular lean massblood total cholesterol level (CMO:0000051)1109274968109274969Human
597157195GWAS1253269_Hfatty acid measurement QTL GWAS1253269 (human)4e-08fatty acid measurement1109275536109275538Human
597285190GWAS1381264_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1381264 (human)2e-19triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597175672GWAS1271746_Htriglycerides to total lipids in small LDL percentage QTL GWAS1271746 (human)7e-24blood LDL triglyceride amount (VT:0010699)blood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
407047841GWAS696817_Hlow density lipoprotein cholesterol measurement QTL GWAS696817 (human)5e-241low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597299582GWAS1395656_Hcholine measurement QTL GWAS1395656 (human)7e-11choline measurement1109275536109275538Human
596954482GWAS1074001_Hcoronary artery disease QTL GWAS1074001 (human)3e-40triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597250430GWAS1346504_Hapolipoprotein A 1 measurement QTL GWAS1346504 (human)2e-10apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)1109264212109264213Human
597045617GWAS1141691_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS1141691 (human)3e-09sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597579126GWAS1635986_Hhyperlipidemia QTL GWAS1635986 (human)2e-65hyperlipidemia1109274968109274969Human
597163389GWAS1259463_Hmyocardial infarction QTL GWAS1259463 (human)3e-23myocardial infarction1109274968109274969Human
597186930GWAS1283004_Hcholesterol to total lipids in very small VLDL percentage QTL GWAS1283004 (human)2e-13cholesterol to total lipids in very small VLDL percentage 1109274968109274969Human
597257586GWAS1353660_Htotal cholesterol measurement QTL GWAS1353660 (human)8e-28total cholesterol measurementblood total cholesterol level (CMO:0000051)1109258723109258724Human
597188979GWAS1285053_Hlow density lipoprotein cholesterol measurement QTL GWAS1285053 (human)2e-92low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597032315GWAS1128389_Hlow density lipoprotein cholesterol measurement QTL GWAS1128389 (human)1e-128low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597173623GWAS1269697_Hcholesterol to total lipids in small HDL percentage QTL GWAS1269697 (human)9e-37cholesterol to total lipids in small HDL percentage 1109274968109274969Human
597142886GWAS1238960_Hlow density lipoprotein cholesterol measurement QTL GWAS1238960 (human)2e-48cholesterol in very small VLDL measurement blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
407047857GWAS696833_Htotal cholesterol measurement QTL GWAS696833 (human)2e-170total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597288303GWAS1384377_Hmyocardial infarction QTL GWAS1384377 (human)8e-15myocardial infarction1109274968109274969Human
597289326GWAS1385400_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1385400 (human)2e-152low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597177711GWAS1273785_Hfree cholesterol in small VLDL measurement QTL GWAS1273785 (human)5e-75blood VLDL cholesterol amount (VT:0005144)1109274968109274969Human
597579109GWAS1635969_Hhigh density lipoprotein cholesterol measurement QTL GWAS1635969 (human)2e-55high density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597166438GWAS1262512_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1262512 (human)6e-91total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597298334GWAS1394408_Hneogenin measurement QTL GWAS1394408 (human)7e-15neogenin measurement1109275684109275685Human
597079187GWAS1175261_Hlow density lipoprotein cholesterol measurement QTL GWAS1175261 (human)0.0000001low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
596979869GWAS1099388_Hbody height QTL GWAS1099388 (human)1e-10body height (VT:0001253)body height (CMO:0000106)1109274968109274969Human
597179539GWAS1275613_Hcholesteryl ester measurement QTL GWAS1275613 (human)2e-83blood lipid amount (VT:0003949)1109274968109274969Human
597185683GWAS1281757_Htotal lipids in large LDL QTL GWAS1281757 (human)9e-91total lipids in large LDL1109274968109274969Human
597062790GWAS1158864_Htotal cholesterol measurement QTL GWAS1158864 (human)4e-11blood HDL triglyceride amount (VT:0010698)blood total cholesterol level (CMO:0000051)1109274968109274969Human
597062791GWAS1158865_Htotal cholesterol measurement QTL GWAS1158865 (human)2e-168total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597184649GWAS1280723_Hcholesteryl ester measurement QTL GWAS1280723 (human)4e-59blood lipid amount (VT:0003949)1109274968109274969Human
597176458GWAS1272532_Hapolipoprotein B measurement QTL GWAS1272532 (human)5e-30apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109275684109275685Human
597165198GWAS1261272_Hfatty acid measurement QTL GWAS1261272 (human)1e-10fatty acid measurement1109275536109275538Human
597185679GWAS1281753_Hcholesteryl ester measurement QTL GWAS1281753 (human)5e-46blood lipid amount (VT:0003949)1109274968109274969Human
597062798GWAS1158872_Htotal cholesterol measurement QTL GWAS1158872 (human)4e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597062799GWAS1158873_Htotal cholesterol measurement QTL GWAS1158873 (human)3e-164total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597062796GWAS1158870_Htotal cholesterol measurement QTL GWAS1158870 (human)7e-135total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597062797GWAS1158871_Htotal cholesterol measurement QTL GWAS1158871 (human)5e-21total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275684109275685Human
597051530GWAS1147604_Hlow density lipoprotein cholesterol measurement, physical activity QTL GWAS1147604 (human)2e-309low density lipoprotein cholesterol measurement, physical activityblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597062794GWAS1158868_Htotal cholesterol measurement QTL GWAS1158868 (human)0.0000002coronary artery diseaseblood total cholesterol level (CMO:0000051)1109275216109275217Human
597062795GWAS1158869_Htotal cholesterol measurement QTL GWAS1158869 (human)4e-154total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275216109275217Human
597609600GWAS1666460_HHypercholesterolemia, family history QTL GWAS1666460 (human)8e-33Hypercholesterolemia, family history1109274570109274571Human
597289095GWAS1385169_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1385169 (human)3e-40triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597062792GWAS1158866_Htotal cholesterol measurement QTL GWAS1158866 (human)3e-126total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275216109275217Human
597062793GWAS1158867_Htotal cholesterol measurement QTL GWAS1158867 (human)4e-20total cholesterol measurementblood total cholesterol level (CMO:0000051)1109275216109275217Human
597178552GWAS1274626_Hneogenin measurement QTL GWAS1274626 (human)2e-25neogenin measurement1109275216109275217Human
597175483GWAS1271557_Hphospholipids:total lipids ratio QTL GWAS1271557 (human)1e-16triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597187771GWAS1283845_Hcholesteryl esters to total lipids in very large VLDL percentage QTL GWAS1283845 (human)5e-22blood lipid amount (VT:0003949)1109274968109274969Human
597186750GWAS1282824_Htriglycerides to total lipids in medium VLDL percentage QTL GWAS1282824 (human)2e-34triglycerides to total lipids in medium VLDL percentage 1109274968109274969Human
597181616GWAS1277690_Hasialoglycoprotein receptor 1 measurement QTL GWAS1277690 (human)1e-16asialoglycoprotein receptor 1 measurement1109274570109274571Human
407092074GWAS741050_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS741050 (human)5e-226response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)1109274570109274571Human
597148857GWAS1244931_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1244931 (human)3e-125low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109274968109274969Human
597259433GWAS1355507_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1355507 (human)5e-13very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597023908GWAS1119982_Hresponse to darapladib, lipoprotein-associated phospholipase A(2) change measurement QTL GWAS1119982 (human)8e-09serum metabolite measurement1109274570109274571Human
597578927GWAS1635787_Hhyperlipidemia QTL GWAS1635787 (human)8e-300hyperlipidemia1109274570109274571Human
597025959GWAS1122033_Hhigh density lipoprotein cholesterol measurement QTL GWAS1122033 (human)1e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597143717GWAS1239791_Hlow density lipoprotein cholesterol measurement QTL GWAS1239791 (human)6e-110low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275536109275538Human
597246125GWAS1342199_Hlow density lipoprotein cholesterol measurement QTL GWAS1342199 (human)2e-27low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109258499109258500Human
597183661GWAS1279735_Hphospholipids in medium VLDL measurement QTL GWAS1279735 (human)6e-55phospholipids in medium VLDL measurementblood very low density lipoprotein phospholipid level (CMO:0001571)1109274968109274969Human
597257388GWAS1353462_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1353462 (human)7e-52non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109275216109275217Human
597618854GWAS1675714_Hangina pectoris QTL GWAS1675714 (human)4e-30angina pectoris1109274968109274969Human
597185699GWAS1281773_Hlow density lipoprotein cholesterol measurement QTL GWAS1281773 (human)4e-72low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597041323GWAS1137397_Hserum metabolite measurement QTL GWAS1137397 (human)6e-09Sphingomyelin (d18:1/20:1, d18:2/20:0) measurement1109274570109274571Human
596955305GWAS1074824_Hdiabetes mellitus QTL GWAS1074824 (human)4e-15pancreas integrity trait (VT:0010560)1109274968109274969Human
597608608GWAS1665468_Hhyperlipidemia QTL GWAS1665468 (human)6e-259hyperlipidemia1109274968109274969Human
407115525GWAS764501_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS764501 (human)4e-28response to alcohol trait (VT:0010489)blood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597155030GWAS1251104_Hfree cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1251104 (human)8e-96free cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597259483GWAS1355557_Htotal cholesterol measurement QTL GWAS1355557 (human)2e-1497total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597104852GWAS1200926_Hmean corpuscular volume QTL GWAS1200926 (human)7e-18esterified cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597262556GWAS1358630_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1358630 (human)5e-18very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597169375GWAS1265449_Hfree cholesterol in small VLDL measurement QTL GWAS1265449 (human)3e-29blood VLDL cholesterol amount (VT:0005144)1109275684109275685Human
597155039GWAS1251113_Hlipid measurement, intermediate density lipoprotein measurement QTL GWAS1251113 (human)3e-90blood lipid amount (VT:0003949)blood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597183698GWAS1279772_Hfree cholesterol in IDL measurement QTL GWAS1279772 (human)4e-70free cholesterol in IDL measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597154011GWAS1250085_Htotal cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1250085 (human)5e-114total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597159131GWAS1255205_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1255205 (human)7e-31chylomicron measurement, very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597183702GWAS1279776_Htotal lipids in IDL QTL GWAS1279776 (human)7e-67total lipids in IDL1109274968109274969Human
597283021GWAS1379095_Hhigh density lipoprotein cholesterol measurement QTL GWAS1379095 (human)1e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597023949GWAS1120023_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS1120023 (human)4e-39lipoprotein-associated phospholipase A(2) measurement1109274968109274969Human
597106895GWAS1202969_HAntithrombotic agent use measurement QTL GWAS1202969 (human)3e-20Antithrombotic agent use measurement1109274968109274969Human
597242048GWAS1338122_HC-reactive protein measurement QTL GWAS1338122 (human)2e-11C-reactive protein measurementblood C-reactive protein level (CMO:0003160)1109274241109274243Human
597289155GWAS1385229_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1385229 (human)1e-172phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597173445GWAS1269519_Hphospholipids:total lipids ratio QTL GWAS1269519 (human)6e-92phospholipids:total lipids ratio1109274968109274969Human
597279940GWAS1376014_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1376014 (human)6e-15very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275216109275217Human
597325049GWAS1421123_Htotal cholesterol measurement QTL GWAS1421123 (human)1e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597186811GWAS1282885_Hcholesteryl ester measurement QTL GWAS1282885 (human)2e-51blood lipid amount (VT:0003949)1109274968109274969Human
597173500GWAS1269574_Hapolipoprotein B to apolipoprotein A1 ratio QTL GWAS1269574 (human)1e-85apolipoprotein B to apolipoprotein A1 ratio 1109274968109274969Human
597184765GWAS1280839_Htotal lipids in small LDL QTL GWAS1280839 (human)4e-106total lipids in small LDL1109274968109274969Human
597259519GWAS1355593_Hvery low density lipoprotein cholesterol measurement QTL GWAS1355593 (human)4e-48very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275684109275685Human
597580022GWAS1636882_Hhigh density lipoprotein cholesterol measurement QTL GWAS1636882 (human)2e-45blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274968109274969Human
597156094GWAS1252168_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1252168 (human)1e-37very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597149950GWAS1246024_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1246024 (human)3e-13low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597188855GWAS1284929_Htriglycerides to total lipids in large LDL percentage QTL GWAS1284929 (human)5e-17blood LDL triglyceride amount (VT:0010699)1109274968109274969Human
407089964GWAS738940_Hheart failure QTL GWAS738940 (human)3e-10ceramide measurement1109275216109275217Human
597578990GWAS1635850_HHyperlipidemia QTL GWAS1635850 (human)7e-53Hyperlipidemia1109274570109274571Human
597310696GWAS1406770_Haspirin use measurement QTL GWAS1406770 (human)1e-17aspirin use measurement1109274968109274969Human
597284074GWAS1380148_Htriglycerides:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1380148 (human)6e-25triglycerides:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597258477GWAS1354551_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS1354551 (human)5e-63blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597184749GWAS1280823_Htotal cholesterol measurement QTL GWAS1280823 (human)5e-79total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597291235GWAS1387309_Hdiabetes mellitus QTL GWAS1387309 (human)4e-15pancreas integrity trait (VT:0010560)1109274968109274969Human
597159147GWAS1255221_Hperipheral arterial disease QTL GWAS1255221 (human)2e-12peripheral arterial disease1109274570109274571Human
597578979GWAS1635839_HHyperlipidemia QTL GWAS1635839 (human)9e-20Hyperlipidemia1109274968109274969Human
597165285GWAS1261359_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS1261359 (human)3e-144low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)1109274968109274969Human
597092584GWAS1188658_Htotal cholesterol measurement QTL GWAS1188658 (human)9e-27total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597156073GWAS1252147_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1252147 (human)3e-121free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597151764GWAS1247838_Hlow density lipoprotein cholesterol measurement QTL GWAS1247838 (human)6e-143low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597254173GWAS1350247_Hapolipoprotein B measurement QTL GWAS1350247 (human)6e-17apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)1109250455109250456Human
597597210GWAS1654070_Hlow density lipoprotein cholesterol measurement QTL GWAS1654070 (human)9e-63low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
597188624GWAS1284698_Hcholesterol to total lipids in chylomicrons and extremely large VLDL percentage QTL GWAS1284698 (human)2e-12cholesterol to total lipids in chylomicrons and extremely large VLDL percentage 1109275216109275217Human
597070876GWAS1166950_Htotal cholesterol measurement QTL GWAS1166950 (human)2e-47total cholesterol measurementblood total cholesterol level (CMO:0000051)1109264661109264662Human
406987720GWAS636696_Hbody height QTL GWAS636696 (human)2e-14body height (VT:0001253)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597156893GWAS1252967_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1252967 (human)5e-130phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597070877GWAS1166951_Htotal cholesterol measurement QTL GWAS1166951 (human)0.0000008total cholesterol measurementblood total cholesterol level (CMO:0000051)1109264661109264662Human
596953114GWAS1072633_He-selectin measurement QTL GWAS1072633 (human)2e-18e-selectin measurement1109274968109274969Human
597171222GWAS1267296_Hphosphoglycerides measurement QTL GWAS1267296 (human)6e-20blood phospholipid amount (VT:0006084)1109275216109275217Human
597166095GWAS1262169_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS1262169 (human)2e-103free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597148685GWAS1244759_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS1244759 (human)8e-27very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597337095GWAS1433169_Htriglyceride measurement QTL GWAS1433169 (human)6e-24triglyceride measurementblood triglyceride level (CMO:0000118)1109274968109274969Human
597070902GWAS1166976_Htotal cholesterol measurement QTL GWAS1166976 (human)9e-135total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274968109274969Human
597161014GWAS1257088_Hlow density lipoprotein cholesterol measurement QTL GWAS1257088 (human)4e-124low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597070900GWAS1166974_Htotal cholesterol measurement QTL GWAS1166974 (human)1e-23total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597070901GWAS1166975_Htotal cholesterol measurement QTL GWAS1166975 (human)4e-167total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
597070898GWAS1166972_Htotal cholesterol measurement QTL GWAS1166972 (human)2e-54total cholesterol measurementblood total cholesterol level (CMO:0000051)1109264661109264662Human
597070899GWAS1166973_Htotal cholesterol measurement QTL GWAS1166973 (human)5e-134total cholesterol measurementblood total cholesterol level (CMO:0000051)1109274570109274571Human
596978739GWAS1098258_Hcoronary artery disease QTL GWAS1098258 (human)4e-08coronary artery disease1109254135109254136Human
596952114GWAS1071633_Hcholesterol in very small VLDL measurement QTL GWAS1071633 (human)2e-48cholesterol in very small VLDL measurement 1109274968109274969Human
597597240GWAS1654100_Hlow density lipoprotein cholesterol measurement QTL GWAS1654100 (human)1e-99low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597606454GWAS1663314_Hmetabolic disease QTL GWAS1663314 (human)7e-262metabolic disease1109274968109274969Human
597155903GWAS1251977_Htriglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1251977 (human)6e-20triglycerides:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597188656GWAS1284730_Hfree cholesterol to total lipids in large LDL percentage QTL GWAS1284730 (human)9e-10blood cholesterol amount (VT:0000180)blood high density lipoprotein cholesterol level (CMO:0000052)1109274968109274969Human
597187633GWAS1283707_Htriglycerides to total lipids in very large VLDL percentage QTL GWAS1283707 (human)1e-24blood VLDL triglyceride amount (VT:0010700)1109274968109274969Human
597151806GWAS1247880_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS1247880 (human)9e-31triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)1109275536109275538Human
597252148GWAS1348222_Htotal cholesterol measurement QTL GWAS1348222 (human)2e-44total cholesterol measurementblood total cholesterol level (CMO:0000051)1109256292109256293Human
597164074GWAS1260148_HHMG CoA reductase inhibitor use measurement QTL GWAS1260148 (human)3e-29HMG CoA reductase inhibitor use measurement1109274570109274571Human
597578797GWAS1635657_HHypercholesterolemia QTL GWAS1635657 (human)2e-28Hypercholesterolemia1109274968109274969Human
597184555GWAS1280629_Hphospholipids:total lipids ratio QTL GWAS1280629 (human)7e-46phospholipids:total lipids ratio1109274968109274969Human
597195820GWAS1291894_Hglomerular filtration rate QTL GWAS1291894 (human)1e-30glomerular filtration rateglomerular filtration rate (CMO:0000490)1109275684109275685Human
597098530GWAS1194604_Hlow density lipoprotein cholesterol measurement QTL GWAS1194604 (human)7e-104low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597319714GWAS1415788_Hlow density lipoprotein cholesterol measurement QTL GWAS1415788 (human)4e-75low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597259296GWAS1355370_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1355370 (human)9e-19very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
597578791GWAS1635651_Hhyperlipidemia QTL GWAS1635651 (human)1e-31hyperlipidemia1109274968109274969Human
597578786GWAS1635646_Hmetabolic disease QTL GWAS1635646 (human)6e-294metabolic disease1109274570109274571Human
597122090GWAS1218164_Hblood protein measurement QTL GWAS1218164 (human)4e-54blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274570109274571Human
597188646GWAS1284720_Hcholesterol to total lipids in small VLDL percentage QTL GWAS1284720 (human)5e-48blood VLDL triglyceride amount (VT:0010700)1109274968109274969Human
596978731GWAS1098250_Hcardiovascular disease QTL GWAS1098250 (human)5e-23cardiovascular disease1109275684109275685Human
596979797GWAS1099316_Hmyocardial infarction QTL GWAS1099316 (human)8e-15myocardial infarction1109274968109274969Human
597153879GWAS1249953_Hcholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1249953 (human)2e-11cholesterol:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)1109274968109274969Human
597224539GWAS1320613_Hesterified cholesterol measurement QTL GWAS1320613 (human)4e-10esterified cholesterol measurement1109275684109275685Human
597150802GWAS1246876_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS1246876 (human)5e-132free cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597041232GWAS1137306_Hlow density lipoprotein cholesterol measurement QTL GWAS1137306 (human)1e-277low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109264661109264662Human
597187666GWAS1283740_Hcholesteryl esters to total lipids in large LDL percentage QTL GWAS1283740 (human)3e-24cholesteryl esters to total lipids in large LDL percentage 1109274968109274969Human
597288018GWAS1384092_Htriglycerides in very large HDL measurement QTL GWAS1384092 (human)2e-18blood HDL triglyceride amount (VT:0010698)1109275216109275217Human
597045336GWAS1141410_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS1141410 (human)1e-16sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109254135109254136Human
597045337GWAS1141411_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS1141411 (human)5e-136sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597164105GWAS1260179_Hangina pectoris QTL GWAS1260179 (human)7e-23angina pectoris1109275216109275217Human
597231691GWAS1327765_Hblood protein measurement QTL GWAS1327765 (human)3e-40blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1109274570109274571Human
597158981GWAS1255055_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS1255055 (human)2e-36triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1109275684109275685Human
597075013GWAS1171087_Hcoronary artery disease QTL GWAS1171087 (human)4e-27coronary artery disease1109274570109274571Human
597168203GWAS1264277_Hfree cholesterol measurement QTL GWAS1264277 (human)2e-87free cholesterol measurementblood cholesterol level (CMO:0002280)1109274968109274969Human
597619782GWAS1676642_Hocclusion precerebral artery QTL GWAS1676642 (human)1e-21occlusion precerebral artery1109274968109274969Human
597609540GWAS1666400_Hfamilial lipoprotein lipase deficiency QTL GWAS1666400 (human)7e-45familial lipoprotein lipase deficiency1109274968109274969Human
597348416GWAS1444490_Hmyocardial infarction QTL GWAS1444490 (human)6e-30myocardial infarction1109274968109274969Human
597593157GWAS1650017_Hplatelet count QTL GWAS1650017 (human)5e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)1109274968109274969Human
597183556GWAS1279630_Hphospholipids in medium LDL measurement QTL GWAS1279630 (human)3e-93blood lipid amount (VT:0003949)blood low density lipoprotein phospholipid level (CMO:0001568)1109274968109274969Human
407082910GWAS731886_Hlow density lipoprotein cholesterol measurement QTL GWAS731886 (human)1e-33low density lipoprotein particle size measurementblood low density lipoprotein particle diameter (CMO:0002693)1109274570109274571Human
597618814GWAS1675674_Hintermediate coronary syndrome QTL GWAS1675674 (human)3e-17blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)1109274968109274969Human
597607551GWAS1664411_HHypercholesterolemia, family history QTL GWAS1664411 (human)5e-32Hypercholesterolemia, family history1109274570109274571Human
597596282GWAS1653142_HHypercholesterolemia, family history QTL GWAS1653142 (human)9e-27Hypercholesterolemia, family history1109274968109274969Human
597287025GWAS1383099_HC-reactive protein measurement QTL GWAS1383099 (human)7e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)1109275536109275538Human
596988005GWAS1107524_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1107524 (human)2e-56non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1109274968109274969Human
597165162GWAS1261236_Htype 2 diabetes mellitus, major depressive disorder, coronary artery disease QTL GWAS1261236 (human)0.000003type 2 diabetes mellitus, major depressive disorder, coronary artery disease1109274570109274571Human
597156965GWAS1253039_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS1253039 (human)4e-42very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)1109274968109274969Human
407094198GWAS743174_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS743174 (human)2e-273low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
407094197GWAS743173_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS743173 (human)6e-34low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)1109274570109274571Human
596951139GWAS1070658_Hhigh density lipoprotein cholesterol measurement QTL GWAS1070658 (human)0.000002high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1109274570109274571Human
597578857GWAS1635717_HHypercholesterolemia QTL GWAS1635717 (human)5e-89Hypercholesterolemia1109274570109274571Human
597174383GWAS1270457_Hphospholipids:total lipids ratio QTL GWAS1270457 (human)2e-58phospholipids:total lipids ratio1109274968109274969Human
597186657GWAS1282731_Hcholesterol to total lipids in very large VLDL percentage QTL GWAS1282731 (human)1e-20cholesterol to total lipids in very large VLDL percentage 1109274968109274969Human
596958318GWAS1077837_Hcholine measurement QTL GWAS1077837 (human)6e-10choline measurement1109275216109275217Human

Markers in Region
RH80782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,816,696 - 109,816,921UniSTSGRCh37
Build 361109,618,219 - 109,618,444RGDNCBI36
Celera1108,086,060 - 108,086,285RGD
Cytogenetic Map1p21UniSTS
HuRef1107,709,940 - 107,710,165UniSTS
GeneMap99-GB4 RH Map1338.44UniSTS
SHGC-132473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,817,822 - 109,818,120UniSTSGRCh37
Build 361109,619,345 - 109,619,643RGDNCBI36
Celera1108,087,186 - 108,087,484RGD
Cytogenetic Map1p21UniSTS
HuRef1107,711,066 - 107,711,364UniSTS
TNG Radiation Hybrid Map159669.0UniSTS
RH78101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,816,210 - 109,816,739UniSTSGRCh37
Build 361109,617,733 - 109,618,262RGDNCBI36
Celera1108,085,574 - 108,086,103RGD
Cytogenetic Map1p21UniSTS
HuRef1107,709,454 - 107,709,983UniSTS
GeneMap99-GB4 RH Map1343.31UniSTS
NCBI RH Map1834.3UniSTS
SHGC-32538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,818,079 - 109,818,205UniSTSGRCh37
Build 361109,619,602 - 109,619,728RGDNCBI36
Celera1108,087,443 - 108,087,570RGD
Cytogenetic Map1p21UniSTS
HuRef1107,711,323 - 107,711,449UniSTS
Stanford-G3 RH Map15118.0UniSTS
GeneMap99-G3 RH Map15074.0UniSTS
SHGC-57403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,812,061 - 109,812,181UniSTSGRCh37
Build 361109,613,584 - 109,613,704RGDNCBI36
Celera1108,081,425 - 108,081,545RGD
Cytogenetic Map1p21UniSTS
HuRef1107,705,305 - 107,705,425UniSTS
G16013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,792,688 - 109,792,906UniSTSGRCh37
Build 361109,594,211 - 109,594,429RGDNCBI36
Celera1108,062,050 - 108,062,271RGD
Cytogenetic Map1p21UniSTS
HuRef1107,685,912 - 107,686,133UniSTS
CELSR2_4552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,817,663 - 109,818,368UniSTSGRCh37
Build 361109,619,186 - 109,619,891RGDNCBI36
Celera1108,087,027 - 108,087,733RGD
HuRef1107,710,907 - 107,711,612UniSTS
CELSR2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,812,356 - 109,813,199UniSTSGRCh37
Celera1108,081,720 - 108,082,563UniSTS
HuRef1107,705,600 - 107,706,443UniSTS


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 2434 2788 2248 4970 1724 2350 5 624 1938 465 2269 7287 6455 51 3732 1 852 1741 1616 175 1

Sequence


Ensembl Acc Id: ENST00000271332   ⟹   ENSP00000271332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,249,539 - 109,275,751 (+)Ensembl
Ensembl Acc Id: ENST00000459940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,265,269 - 109,266,439 (+)Ensembl
Ensembl Acc Id: ENST00000489018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,269,727 - 109,274,309 (+)Ensembl
Ensembl Acc Id: ENST00000498157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,270,824 - 109,275,607 (+)Ensembl
RefSeq Acc Id: NM_001408   ⟹   NP_001399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,249,539 - 109,275,751 (+)NCBI
GRCh371109,792,641 - 109,818,378 (+)ENTREZGENE
GRCh371109,792,641 - 109,818,378 (+)NCBI
Build 361109,594,164 - 109,619,901 (+)NCBI Archive
HuRef1107,685,865 - 107,711,622 (+)ENTREZGENE
CHM1_11109,907,493 - 109,933,231 (+)NCBI
T2T-CHM13v2.01109,282,346 - 109,308,548 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001399   ⟸   NM_001408
- Peptide Label: precursor
- UniProtKB: Q9HCU4 (UniProtKB/Swiss-Prot),   Q5T2Y7 (UniProtKB/Swiss-Prot),   Q92566 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000271332   ⟸   ENST00000271332
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HCU4-F1-model_v2 AlphaFold Q9HCU4 1-1400 view protein structure
AF-Q9HCU4-F2-model_v2 AlphaFold Q9HCU4 201-1600 view protein structure
AF-Q9HCU4-F3-model_v2 AlphaFold Q9HCU4 401-1800 view protein structure
AF-Q9HCU4-F4-model_v2 AlphaFold Q9HCU4 601-2000 view protein structure
AF-Q9HCU4-F5-model_v2 AlphaFold Q9HCU4 801-2200 view protein structure
AF-Q9HCU4-F6-model_v2 AlphaFold Q9HCU4 1001-2400 view protein structure
AF-Q9HCU4-F7-model_v2 AlphaFold Q9HCU4 1201-2600 view protein structure
AF-Q9HCU4-F8-model_v2 AlphaFold Q9HCU4 1401-2800 view protein structure
AF-Q9HCU4-F9-model_v2 AlphaFold Q9HCU4 1601-2923 view protein structure

Promoters
RGD ID:6784904
Promoter ID:HG_KWN:3971
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001408
Position:
Human AssemblyChrPosition (strand)Source
Build 361109,593,409 - 109,593,909 (+)MPROMDB
RGD ID:6784905
Promoter ID:HG_KWN:3972
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:OTTHUMT00000033203
Position:
Human AssemblyChrPosition (strand)Source
Build 361109,607,629 - 109,608,129 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3231 AgrOrtholog
COSMIC CELSR2 COSMIC
Ensembl Genes ENSG00000143126 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000271332 ENTREZGENE
  ENST00000271332.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.610 UniProtKB/Swiss-Prot
  2.60.120.200 UniProtKB/Swiss-Prot
  2.60.220.50 UniProtKB/Swiss-Prot
  4.10.1240.10 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot
  Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000143126 GTEx
HGNC ID HGNC:3231 ENTREZGENE
Human Proteome Map CELSR2 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  ConA-like_dom_sf UniProtKB/Swiss-Prot
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot
  GAIN_dom_N UniProtKB/Swiss-Prot
  GAIN_dom_sf UniProtKB/Swiss-Prot
  GPCR_2-like UniProtKB/Swiss-Prot
  GPCR_2_extracell_dom_sf UniProtKB/Swiss-Prot
  GPCR_2_extracellular_dom UniProtKB/Swiss-Prot
  GPCR_2_secretin-like UniProtKB/Swiss-Prot
  GPS UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  Laminin_EGF UniProtKB/Swiss-Prot
  Laminin_G UniProtKB/Swiss-Prot
KEGG Report hsa:1952 UniProtKB/Swiss-Prot
NCBI Gene 1952 ENTREZGENE
OMIM 604265 OMIM
PANTHER CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2 UniProtKB/Swiss-Prot
  FAT ATYPICAL CADHERIN-RELATED UniProtKB/Swiss-Prot
Pfam 7tm_2 UniProtKB/Swiss-Prot
  Cadherin UniProtKB/Swiss-Prot
  EGF UniProtKB/Swiss-Prot
  GAIN UniProtKB/Swiss-Prot
  GPS UniProtKB/Swiss-Prot
  Laminin_EGF UniProtKB/Swiss-Prot
  Laminin_G_2 UniProtKB/Swiss-Prot
PharmGKB PA26394 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
  GPCRSECRETIN UniProtKB/Swiss-Prot
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
  EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/Swiss-Prot
  EGF_LAM_2 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F2_3 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot
  GPS UniProtKB/Swiss-Prot
  LAM_G_DOMAIN UniProtKB/Swiss-Prot
SMART EGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  EGF_Lam UniProtKB/Swiss-Prot
  GPS UniProtKB/Swiss-Prot
  HormR UniProtKB/Swiss-Prot
  LamG UniProtKB/Swiss-Prot
  SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
  SSF49313 UniProtKB/Swiss-Prot
  SSF49899 UniProtKB/Swiss-Prot
  SSF57184 UniProtKB/Swiss-Prot
UniProt CELR2_HUMAN UniProtKB/Swiss-Prot
  Q5T2Y7 ENTREZGENE
  Q92566 ENTREZGENE
  Q9HCU4 ENTREZGENE
UniProt Secondary Q5T2Y7 UniProtKB/Swiss-Prot
  Q92566 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CELSR2  cadherin EGF LAG seven-pass G-type receptor 2  CELSR2  cadherin, EGF LAG seven-pass G-type receptor 2  Symbol and/or name change 5135510 APPROVED
2013-02-27 CELSR2  cadherin, EGF LAG seven-pass G-type receptor 2  CELSR2  cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)  Symbol and/or name change 5135510 APPROVED