SLC39A8 (solute carrier family 39 member 8) - Rat Genome Database

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Gene: SLC39A8 (solute carrier family 39 member 8) Homo sapiens
Analyze
Symbol: SLC39A8
Name: solute carrier family 39 member 8
RGD ID: 1317894
HGNC Page HGNC:20862
Description: Enables monoatomic cation:bicarbonate symporter activity. Involved in several processes, including cellular detoxification of cadmium ion; monoatomic cation transmembrane transport; and plasma membrane selenite transport. Acts upstream of with a negative effect on negative regulation of canonical NF-kappaB signal transduction and negative regulation of inflammatory response. Located in apical plasma membrane; basolateral plasma membrane; and lysosomal membrane. Implicated in congenital disorder of glycosylation type IIn.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCG induced integral membrane protein BIGM103; BCG-induced integral membrane protein in monocyte clone 103 protein; BIGM103; CDG2N; LIV-1 subfamily of ZIP zinc transporter 6; LZT-Hs6; metal cation symporter ZIP8; PP3105; solute carrier family 39 (metal ion transporter), member 8; solute carrier family 39 (zinc transporter), member 8; Zinc transporter 8; zinc transporter ZIP8; ZIP-8; ZIP8; Zrt- and Irt-like protein 8; ZRT/IRT-like protein 8
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
GRCh384102,251,041 - 102,345,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,251,080 - 102,431,258 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,172,198 - 103,266,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364103,401,844 - 103,485,371 (-)NCBINCBI36Build 36hg18NCBI36
Build 344103,539,998 - 103,623,526NCBI
Celera4100,470,678 - 100,565,146 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef498,909,550 - 99,003,934 (-)NCBIHuRef
CHM1_14103,148,714 - 103,243,025 (-)NCBICHM1_1
T2T-CHM13v2.04105,565,252 - 105,659,701 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
Azoxymethane  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt atom  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diethylstilbestrol  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
flutamide  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
hydrogencarbonate  (ISO)
indometacin  (ISO)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
isotretinoin  (EXP)
L-ethionine  (ISO)
lead diacetate  (EXP,ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
mercury atom  (ISO)
mercury dibromide  (EXP)
mercury(0)  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
N-methylformamide  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP,ISO)
nimesulide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercitrin  (EXP)
resveratrol  (EXP)
rimonabant  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium hydrogencarbonate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blood zinc concentration  (IAGP)
Abnormality of the liver  (IAGP)
Astigmatism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous syndactyly of toes  (IAGP)
Decreased activity of mitochondrial complex II  (IAGP)
Decreased activity of mitochondrial complex IV  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Decreased mitochondrial complex III activity in liver tissue  (IAGP)
Delayed ability to sit  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Dystonia  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Failure to thrive in infancy  (IAGP)
Flat face  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypomanganesemia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Increased CSF lactate  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Joint hypermobility  (IAGP)
Knee flexion contracture  (IAGP)
Limb undergrowth  (IAGP)
Low-set ears  (IAGP)
Nystagmus  (IAGP)
Osteopenia  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Profound global developmental delay  (IAGP)
Recurrent infections  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Sudden episodic apnea  (IAGP)
Type II transferrin isoform profile  (IAGP)
Ventriculomegaly  (IAGP)
Visual fixation instability  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulators of Iron Homeostasis: New Players in Metabolism, Cell Death, and Disease. Bogdan AR, etal., Trends Biochem Sci. 2016 Mar;41(3):274-86. doi: 10.1016/j.tibs.2015.11.012. Epub 2015 Dec 23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease. Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12504855   PMID:12659941   PMID:12839489   PMID:14702039   PMID:16083285   PMID:18270315   PMID:18390834   PMID:18556457   PMID:19064571   PMID:19401385   PMID:20686565  
PMID:20864672   PMID:20935630   PMID:21873635   PMID:21909110   PMID:21909115   PMID:22078303   PMID:22898811   PMID:23403290   PMID:23688035   PMID:23921484   PMID:24097068   PMID:24514587  
PMID:25056061   PMID:26006263   PMID:26025379   PMID:26637978   PMID:26908625   PMID:27166256   PMID:27466201   PMID:27492617   PMID:27995398   PMID:28298427   PMID:28481222   PMID:28514442  
PMID:28917719   PMID:29117863   PMID:29120360   PMID:29333637   PMID:29337306   PMID:29453449   PMID:29749445   PMID:30301978   PMID:30649180   PMID:30703110   PMID:31151823   PMID:31261654  
PMID:31513097   PMID:31521203   PMID:31533672   PMID:31699897   PMID:32247823   PMID:32392784   PMID:32694731   PMID:32753748   PMID:32788640   PMID:32852845   PMID:32897876   PMID:33139556  
PMID:33608496   PMID:33795795   PMID:33961781   PMID:34198528   PMID:34672770   PMID:34768831   PMID:34924116   PMID:35271311   PMID:35636252   PMID:35642632   PMID:35787370   PMID:37023243  
PMID:37616343   PMID:38103342   PMID:38309537   PMID:38687342  


Genomics

Comparative Map Data
SLC39A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384102,251,041 - 102,345,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4102,251,080 - 102,431,258 (-)EnsemblGRCh38hg38GRCh38
GRCh374103,172,198 - 103,266,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364103,401,844 - 103,485,371 (-)NCBINCBI36Build 36hg18NCBI36
Build 344103,539,998 - 103,623,526NCBI
Celera4100,470,678 - 100,565,146 (-)NCBICelera
Cytogenetic Map4q24NCBI
HuRef498,909,550 - 99,003,934 (-)NCBIHuRef
CHM1_14103,148,714 - 103,243,025 (-)NCBICHM1_1
T2T-CHM13v2.04105,565,252 - 105,659,701 (-)NCBIT2T-CHM13v2.0
Slc39a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393135,522,644 - 135,594,333 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3135,531,040 - 135,594,333 (+)EnsemblGRCm39 Ensembl
GRCm383135,816,882 - 135,888,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3135,825,279 - 135,888,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv373135,488,455 - 135,551,536 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363135,763,475 - 135,825,778 (+)NCBIMGSCv36mm8
Celera3142,245,991 - 142,312,950 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map363.04NCBI
Slc39a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82226,845,686 - 226,992,668 (+)NCBIGRCr8
mRatBN7.22224,171,787 - 224,319,326 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2224,256,654 - 224,319,129 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2231,982,580 - 232,044,754 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02229,882,319 - 229,944,486 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02224,746,913 - 224,809,087 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02241,028,851 - 241,092,584 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2241,029,693 - 241,092,582 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02259,584,747 - 259,648,098 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42233,340,397 - 233,403,461 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12233,327,136 - 233,390,197 (+)NCBI
Celera2216,458,405 - 216,522,357 (+)NCBICelera
Cytogenetic Map2q43NCBI
Slc39a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554966,040,029 - 6,109,907 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554966,016,727 - 6,106,965 (+)NCBIChiLan1.0ChiLan1.0
SLC39A8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23100,339,570 - 100,430,481 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14100,626,388 - 100,716,146 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0494,675,458 - 94,770,380 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14105,339,488 - 105,433,813 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4105,339,488 - 105,433,568 (-)Ensemblpanpan1.1panPan2
SLC39A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13223,727,920 - 23,801,459 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3223,729,476 - 23,800,941 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3218,223,143 - 18,296,028 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03223,949,019 - 24,021,586 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3223,949,029 - 24,022,702 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13223,928,002 - 24,000,562 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03223,708,061 - 23,781,012 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03216,083,043 - 16,156,566 (+)NCBIUU_Cfam_GSD_1.0
Slc39a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530117,620,065 - 17,693,363 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936520962,756 - 1,037,274 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936520961,376 - 1,036,801 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC39A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8118,605,402 - 118,678,107 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18118,604,852 - 118,678,115 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28127,753,647 - 127,825,292 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC39A8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1750,355,756 - 50,451,253 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl750,367,436 - 50,451,510 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603728,867,139 - 28,956,324 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc39a8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248305,514,780 - 5,574,894 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248305,514,595 - 5,573,250 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC39A8
173 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter) single nucleotide variant SLC39A8-CDG [RCV001332454] Chr4:102267894 [GRCh38]
Chr4:103189051 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met) single nucleotide variant SLC39A8-CDG [RCV001332456] Chr4:102267997 [GRCh38]
Chr4:103189154 [GRCh37]
Chr4:4q24
uncertain significance
GRCh38/hg38 4q24(chr4:101562032-102292685)x3 copy number gain See cases [RCV000137976] Chr4:101562032..102292685 [GRCh38]
Chr4:102483189..103213842 [GRCh37]
Chr4:102702212..103432865 [NCBI36]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) single nucleotide variant SLC39A8-CDG [RCV000203234]|not provided [RCV001386978] Chr4:102344551 [GRCh38]
Chr4:103265708 [GRCh37]
Chr4:4q24
pathogenic|likely pathogenic
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn) single nucleotide variant SLC39A8-CDG [RCV000203240]|not provided [RCV000492852] Chr4:102267901 [GRCh38]
Chr4:103189058 [GRCh37]
Chr4:4q24
pathogenic|likely pathogenic|uncertain significance
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) single nucleotide variant SLC39A8-CDG [RCV000203248]|not provided [RCV000733882]|not specified [RCV003226248] Chr4:102305054 [GRCh38]
Chr4:103226211 [GRCh37]
Chr4:4q24
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001135146.2(SLC39A8):c.611G>T (p.Gly204Val) single nucleotide variant not provided [RCV001765025] Chr4:102305053 [GRCh38]
Chr4:103226210 [GRCh37]
Chr4:4q24
likely pathogenic|uncertain significance
NM_001135146.2(SLC39A8):c.357del (p.His119fs) deletion not provided [RCV000489149] Chr4:102315693 [GRCh38]
Chr4:103236850 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24
pathogenic
NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter) single nucleotide variant not provided [RCV000439449] Chr4:102267942 [GRCh38]
Chr4:103189099 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001135146.2(SLC39A8):c.523dup (p.Ser175fs) duplication not provided [RCV000478582] Chr4:102307464..102307465 [GRCh38]
Chr4:103228621..103228622 [GRCh37]
Chr4:4q24
likely pathogenic|uncertain significance
NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser) single nucleotide variant Inborn genetic diseases [RCV002526991]|SLC39A8-CDG [RCV002226711]|SLC39A8-related disorder [RCV004730954]|not provided [RCV000487100] Chr4:102267557 [GRCh38]
Chr4:103188714 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs) duplication SLC39A8-CDG [RCV003139700]|not provided [RCV000497410] Chr4:102267625..102267626 [GRCh38]
Chr4:103188782..103188783 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg) single nucleotide variant not provided [RCV000493164] Chr4:102267632 [GRCh38]
Chr4:103188789 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001135146.2(SLC39A8):c.310_320del (p.Val104fs) deletion not provided [RCV000658184] Chr4:102315730..102315740 [GRCh38]
Chr4:103236887..103236897 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001135147.1(SLC39A8):c.1267-204G>A single nucleotide variant not provided [RCV001535075] Chr4:102259718 [GRCh38]
Chr4:103180875 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) single nucleotide variant Inflammatory bowel disease 1 [RCV003227984]|not provided [RCV001680696] Chr4:102267552 [GRCh38]
Chr4:103188709 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1041C>T (p.His347=) single nucleotide variant not provided [RCV001641281] Chr4:102267879 [GRCh38]
Chr4:103189036 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.228T>C (p.Thr76=) single nucleotide variant not provided [RCV000982430] Chr4:102315822 [GRCh38]
Chr4:103236979 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV000899665] Chr4:102267553 [GRCh38]
Chr4:103188710 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.477A>G (p.Pro159=) single nucleotide variant SLC39A8-related disorder [RCV003942832]|not provided [RCV000919906] Chr4:102307511 [GRCh38]
Chr4:103228668 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.81A>C (p.Leu27=) single nucleotide variant SLC39A8-related disorder [RCV003920789]|not provided [RCV000892859] Chr4:102344582 [GRCh38]
Chr4:103265739 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001135146.2(SLC39A8):c.1049-17TCT[4] microsatellite not provided [RCV000831389] Chr4:102267677..102267679 [GRCh38]
Chr4:103188834..103188836 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys) single nucleotide variant SLC39A8-CDG [RCV000984964] Chr4:102268005 [GRCh38]
Chr4:103189162 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) single nucleotide variant SLC39A8-CDG [RCV000785949] Chr4:102315713 [GRCh38]
Chr4:103236870 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.608T>C (p.Phe203Ser) single nucleotide variant not provided [RCV001090879] Chr4:102305056 [GRCh38]
Chr4:103226213 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1049-6T>C single nucleotide variant not provided [RCV000918369] Chr4:102267680 [GRCh38]
Chr4:103188837 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1371C>T (p.Ile457=) single nucleotide variant not provided [RCV000915862] Chr4:102263056 [GRCh38]
Chr4:103184213 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:102980012-103706640)x1 copy number loss not provided [RCV000848913] Chr4:102980012..103706640 [GRCh37]
Chr4:4q24
pathogenic
NM_001135146.2(SLC39A8):c.463A>C (p.Lys155Gln) single nucleotide variant Inborn genetic diseases [RCV003247596] Chr4:102307525 [GRCh38]
Chr4:103228682 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.872G>C (p.Cys291Ser) single nucleotide variant Inborn genetic diseases [RCV003241169] Chr4:102268048 [GRCh38]
Chr4:103189205 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.19del (p.Val7fs) deletion not provided [RCV001577110] Chr4:102344644 [GRCh38]
Chr4:103265801 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1233+153A>G single nucleotide variant not provided [RCV001551184] Chr4:102267337 [GRCh38]
Chr4:103188494 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.219+258T>G single nucleotide variant not provided [RCV001621219] Chr4:102344186 [GRCh38]
Chr4:103265343 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.*88T>C single nucleotide variant not provided [RCV001647876] Chr4:102253334 [GRCh38]
Chr4:103174491 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1049-44dup duplication not provided [RCV001560433] Chr4:102267708..102267709 [GRCh38]
Chr4:103188865..103188866 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.841-180C>T single nucleotide variant not provided [RCV001668073] Chr4:102268259 [GRCh38]
Chr4:103189416 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.220-206dup duplication not provided [RCV001713155] Chr4:102316025..102316026 [GRCh38]
Chr4:103237182..103237183 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.-7G>A single nucleotide variant not provided [RCV001598522] Chr4:102344669 [GRCh38]
Chr4:103265826 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.675+157T>C single nucleotide variant not provided [RCV001671361] Chr4:102304832 [GRCh38]
Chr4:103225989 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.*112T>C single nucleotide variant not provided [RCV001534459] Chr4:102262932 [GRCh38]
Chr4:103184089 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.552+236C>G single nucleotide variant not provided [RCV001638394] Chr4:102307200 [GRCh38]
Chr4:103228357 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.383-68G>A single nucleotide variant not provided [RCV001641098] Chr4:102307673 [GRCh38]
Chr4:103228830 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1234-302C>G single nucleotide variant not provided [RCV001613612] Chr4:102263495 [GRCh38]
Chr4:103184652 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.841-201G>A single nucleotide variant not provided [RCV001592444] Chr4:102268280 [GRCh38]
Chr4:103189437 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1049-44_1049-43dup duplication not provided [RCV001530876] Chr4:102267708..102267709 [GRCh38]
Chr4:103188865..103188866 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.841-109T>C single nucleotide variant not provided [RCV001694937] Chr4:102268188 [GRCh38]
Chr4:103189345 [GRCh37]
Chr4:4q24
benign
NC_000004.11:g.(?_101947022)_(106061534_?)del deletion not provided [RCV003107794] Chr4:101947022..106061534 [GRCh37]
Chr4:4q24
pathogenic
NM_001135146.2(SLC39A8):c.745C>G (p.Pro249Ala) single nucleotide variant SLC39A8-related disorder [RCV003912963]|not provided [RCV000907605] Chr4:102304412 [GRCh38]
Chr4:103225569 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001135146.2(SLC39A8):c.627T>G (p.Leu209=) single nucleotide variant not provided [RCV000911750] Chr4:102305037 [GRCh38]
Chr4:103226194 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.801A>G (p.Gly267=) single nucleotide variant not provided [RCV001656657] Chr4:102304356 [GRCh38]
Chr4:103225513 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.219+70G>C single nucleotide variant not provided [RCV001677086] Chr4:102344374 [GRCh38]
Chr4:103265531 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.1327-66A>C single nucleotide variant not provided [RCV001548367] Chr4:102253496 [GRCh38]
Chr4:103174653 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1233+230del deletion not provided [RCV001644001] Chr4:102267260 [GRCh38]
Chr4:103188417 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.220-196del deletion not provided [RCV001555522] Chr4:102316026 [GRCh38]
Chr4:103237183 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.220-26dup duplication not provided [RCV001595318] Chr4:102315846..102315847 [GRCh38]
Chr4:103237003..103237004 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.*270G>A single nucleotide variant not provided [RCV001639594] Chr4:102253152 [GRCh38]
Chr4:103174309 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.1327-141A>G single nucleotide variant not provided [RCV001689015] Chr4:102253571 [GRCh38]
Chr4:103174728 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.*258G>A single nucleotide variant not provided [RCV001656468] Chr4:102253164 [GRCh38]
Chr4:103174321 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.1327-232C>T single nucleotide variant not provided [RCV001638530] Chr4:102253662 [GRCh38]
Chr4:103174819 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.*137G>A single nucleotide variant not provided [RCV001680719] Chr4:102262907 [GRCh38]
Chr4:103184064 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1234-240A>G single nucleotide variant not provided [RCV001693988] Chr4:102263433 [GRCh38]
Chr4:103184590 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) duplication SLC39A8-CDG [RCV001580614] Chr4:102344444..102344445 [GRCh38]
Chr4:103265601..103265602 [GRCh37]
Chr4:4q24
pathogenic
NM_001135146.2(SLC39A8):c.*266A>G single nucleotide variant not provided [RCV001679211] Chr4:102262778 [GRCh38]
Chr4:103183935 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.840+219T>G single nucleotide variant not provided [RCV001614657] Chr4:102304098 [GRCh38]
Chr4:103225255 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.-254+22C>T single nucleotide variant not provided [RCV001566280] Chr4:102345323 [GRCh38]
Chr4:103266480 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.552+48C>T single nucleotide variant SLC39A8-CDG [RCV001810228]|not provided [RCV001683810] Chr4:102307388 [GRCh38]
Chr4:103228545 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.*262dup duplication not provided [RCV001649521] Chr4:102253159..102253160 [GRCh38]
Chr4:103174316..103174317 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.-253-107T>G single nucleotide variant not provided [RCV001615756] Chr4:102345022 [GRCh38]
Chr4:103266179 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) single nucleotide variant SLC39A8-CDG [RCV001089507] Chr4:102315712 [GRCh38]
Chr4:103236869 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001135146.2(SLC39A8):c.675+200dup duplication not provided [RCV001663305] Chr4:102304784..102304785 [GRCh38]
Chr4:103225941..103225942 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.966del (p.Ile322fs) deletion not provided [RCV001538788] Chr4:102267954 [GRCh38]
Chr4:103189111 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met) single nucleotide variant SLC39A8-CDG [RCV001332453] Chr4:102267900 [GRCh38]
Chr4:103189057 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) single nucleotide variant SLC39A8-CDG [RCV001332455] Chr4:102315734 [GRCh38]
Chr4:103236891 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) single nucleotide variant SLC39A8-CDG [RCV002246293]|not provided [RCV001312045] Chr4:102267955 [GRCh38]
Chr4:103189112 [GRCh37]
Chr4:4q24
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001135146.2(SLC39A8):c.841-186G>T single nucleotide variant not provided [RCV001670580] Chr4:102268265 [GRCh38]
Chr4:103189422 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.383-214C>T single nucleotide variant not provided [RCV001612731] Chr4:102307819 [GRCh38]
Chr4:103228976 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.411G>A (p.Thr137=) single nucleotide variant not provided [RCV001648711] Chr4:102307577 [GRCh38]
Chr4:103228734 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.676-66A>G single nucleotide variant not provided [RCV001670093] Chr4:102304547 [GRCh38]
Chr4:103225704 [GRCh37]
Chr4:4q24
benign
NM_001135147.1(SLC39A8):c.*154A>G single nucleotide variant not provided [RCV001686809] Chr4:102253268 [GRCh38]
Chr4:103174425 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.675+199A>T single nucleotide variant not provided [RCV001665799] Chr4:102304790 [GRCh38]
Chr4:103225947 [GRCh37]
Chr4:4q24
benign
NC_000004.11:g.(?_102001669)_(103806607_?)del deletion not provided [RCV003105379] Chr4:102001669..103806607 [GRCh37]
Chr4:4q24
pathogenic
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile) single nucleotide variant SLC39A8-CDG [RCV002246724] Chr4:102263144 [GRCh38]
Chr4:103184301 [GRCh37]
Chr4:4q24
pathogenic
GRCh37/hg19 4q24(chr4:102851823-104641864) copy number loss Immunodeficiency, common variable, 12 [RCV002280616] Chr4:102851823..104641864 [GRCh37]
Chr4:4q24
likely pathogenic
NM_001135146.2(SLC39A8):c.383-2A>G single nucleotide variant not provided [RCV001772426] Chr4:102307607 [GRCh38]
Chr4:103228764 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1234-264G>A single nucleotide variant not provided [RCV001762871] Chr4:102263457 [GRCh38]
Chr4:103184614 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.157G>T (p.Glu53Ter) single nucleotide variant not provided [RCV001760542] Chr4:102344506 [GRCh38]
Chr4:103265663 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.446dup (p.Leu149fs) duplication not provided [RCV001756319] Chr4:102307541..102307542 [GRCh38]
Chr4:103228698..103228699 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.840+2T>C single nucleotide variant not provided [RCV001757010] Chr4:102304315 [GRCh38]
Chr4:103225472 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_001135146.2(SLC39A8):c.841G>A (p.Asp281Asn) single nucleotide variant not provided [RCV002003464] Chr4:102268079 [GRCh38]
Chr4:103189236 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(?_101947022)_(104640832_?)del deletion Beta-D-mannosidosis [RCV001946800]|not provided [RCV003107924] Chr4:101947022..104640832 [GRCh37]
Chr4:4q24
pathogenic|no classifications from unflagged records
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25
likely pathogenic
NM_001135146.2(SLC39A8):c.131C>A (p.Ser44Ter) single nucleotide variant not provided [RCV002039709] Chr4:102344532 [GRCh38]
Chr4:103265689 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.552+7A>T single nucleotide variant not provided [RCV002039354] Chr4:102307429 [GRCh38]
Chr4:103228586 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala) single nucleotide variant SLC39A8-CDG [RCV002226857] Chr4:102307488 [GRCh38]
Chr4:103228645 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.931G>A (p.Asp311Asn) single nucleotide variant not provided [RCV002223727] Chr4:102267989 [GRCh38]
Chr4:103189146 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1345C>T (p.Leu449Phe) single nucleotide variant not provided [RCV002176361] Chr4:102263082 [GRCh38]
Chr4:103184239 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.220-17del deletion not provided [RCV002118700] Chr4:102315847 [GRCh38]
Chr4:103237004 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1234-11C>G single nucleotide variant not provided [RCV002154569] Chr4:102263204 [GRCh38]
Chr4:103184361 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.814G>C (p.Asp272His) single nucleotide variant Inborn genetic diseases [RCV004683747] Chr4:102304343 [GRCh38]
Chr4:103225500 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.410C>T (p.Thr137Met) single nucleotide variant See cases [RCV002252404] Chr4:102307578 [GRCh38]
Chr4:103228735 [GRCh37]
Chr4:4q24
uncertain significance
A391T variation Inflammatory bowel disease 1 [RCV003152346]   benign
NM_001135146.2(SLC39A8):c.1233+169C>T single nucleotide variant not provided [RCV002285800] Chr4:102267321 [GRCh38]
Chr4:103188478 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:102942671-103682051)x1 copy number loss not provided [RCV002263369] Chr4:102942671..103682051 [GRCh37]
Chr4:4q24
pathogenic
NM_001135146.2(SLC39A8):c.274A>C (p.Ile92Leu) single nucleotide variant not provided [RCV002297753] Chr4:102315776 [GRCh38]
Chr4:103236933 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.382+1_382+12del deletion not provided [RCV002467090] Chr4:102315656..102315667 [GRCh38]
Chr4:103236813..103236824 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met) single nucleotide variant not provided [RCV002518400] Chr4:102344566 [GRCh38]
Chr4:103265723 [GRCh37]
Chr4:4q24
benign|conflicting interpretations of pathogenicity
NM_001135146.2(SLC39A8):c.758G>T (p.Gly253Val) single nucleotide variant Inborn genetic diseases [RCV002816833] Chr4:102304399 [GRCh38]
Chr4:103225556 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.841-9T>G single nucleotide variant not provided [RCV002614732] Chr4:102268088 [GRCh38]
Chr4:103189245 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1048+3A>T single nucleotide variant not provided [RCV002727020] Chr4:102267869 [GRCh38]
Chr4:103189026 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.98_99del (p.Val33fs) microsatellite not provided [RCV002839388] Chr4:102344564..102344565 [GRCh38]
Chr4:103265721..103265722 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.59G>C (p.Gly20Ala) single nucleotide variant Inborn genetic diseases [RCV002979779]|not provided [RCV002995520] Chr4:102344604 [GRCh38]
Chr4:103265761 [GRCh37]
Chr4:4q24
likely benign|uncertain significance
NM_001135146.2(SLC39A8):c.1131T>C (p.Tyr377=) single nucleotide variant not provided [RCV003015626] Chr4:102267592 [GRCh38]
Chr4:103188749 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1259G>C (p.Arg420Thr) single nucleotide variant not provided [RCV002726890] Chr4:102263168 [GRCh38]
Chr4:103184325 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV002682623] Chr4:102344656 [GRCh38]
Chr4:103265813 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.571A>G (p.Lys191Glu) single nucleotide variant Inborn genetic diseases [RCV002754306] Chr4:102305093 [GRCh38]
Chr4:103226250 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.552+1G>A single nucleotide variant not provided [RCV002994389] Chr4:102307435 [GRCh38]
Chr4:103228592 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.783T>A (p.Ala261=) single nucleotide variant not provided [RCV002750396] Chr4:102304374 [GRCh38]
Chr4:103225531 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.219+17C>T single nucleotide variant not provided [RCV003034070] Chr4:102344427 [GRCh38]
Chr4:103265584 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.77G>A (p.Gly26Glu) single nucleotide variant not provided [RCV002971436] Chr4:102344586 [GRCh38]
Chr4:103265743 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1287T>C (p.Asp429=) single nucleotide variant not provided [RCV002843057] Chr4:102263140 [GRCh38]
Chr4:103184297 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.272A>T (p.Gln91Leu) single nucleotide variant Inborn genetic diseases [RCV003012939] Chr4:102315778 [GRCh38]
Chr4:103236935 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1380G>A (p.Glu460=) single nucleotide variant not provided [RCV002842748] Chr4:102263047 [GRCh38]
Chr4:103184204 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1337C>A (p.Ala446Asp) single nucleotide variant not provided [RCV002819009] Chr4:102263090 [GRCh38]
Chr4:103184247 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.137C>T (p.Ala46Val) single nucleotide variant Inborn genetic diseases [RCV002981217] Chr4:102344526 [GRCh38]
Chr4:103265683 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.842A>G (p.Asp281Gly) single nucleotide variant Inborn genetic diseases [RCV002981254] Chr4:102268078 [GRCh38]
Chr4:103189235 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.552+6G>T single nucleotide variant Inborn genetic diseases [RCV002738185]|not provided [RCV003730277] Chr4:102307430 [GRCh38]
Chr4:103228587 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1042G>A (p.Glu348Lys) single nucleotide variant not provided [RCV002736188] Chr4:102267878 [GRCh38]
Chr4:103189035 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg) single nucleotide variant not provided [RCV002510205] Chr4:102267648 [GRCh38]
Chr4:103188805 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe) duplication not provided [RCV002510228] Chr4:102267971..102267972 [GRCh38]
Chr4:103189128..103189129 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.70G>T (p.Gly24Trp) single nucleotide variant Inborn genetic diseases [RCV002660395] Chr4:102344593 [GRCh38]
Chr4:103265750 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.78G>A (p.Gly26=) single nucleotide variant not provided [RCV002979791] Chr4:102344585 [GRCh38]
Chr4:103265742 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.930C>T (p.Cys310=) single nucleotide variant not provided [RCV002781187] Chr4:102267990 [GRCh38]
Chr4:103189147 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.219+18G>C single nucleotide variant not provided [RCV002760376] Chr4:102344426 [GRCh38]
Chr4:103265583 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.153G>C (p.Leu51Phe) single nucleotide variant Inborn genetic diseases [RCV002844237] Chr4:102344510 [GRCh38]
Chr4:103265667 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1049-17TCT[7] microsatellite not provided [RCV002662377] Chr4:102267676..102267677 [GRCh38]
Chr4:103188833..103188834 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.69G>C (p.Glu23Asp) single nucleotide variant not provided [RCV003042447] Chr4:102344594 [GRCh38]
Chr4:103265751 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.751A>G (p.Ile251Val) single nucleotide variant not provided [RCV002700780] Chr4:102304406 [GRCh38]
Chr4:103225563 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.532A>C (p.Ile178Leu) single nucleotide variant not provided [RCV002958987] Chr4:102307456 [GRCh38]
Chr4:103228613 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.87C>T (p.Phe29=) single nucleotide variant not provided [RCV002666539] Chr4:102344576 [GRCh38]
Chr4:103265733 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.389G>T (p.Gly130Val) single nucleotide variant not provided [RCV003043504] Chr4:102307599 [GRCh38]
Chr4:103228756 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.10G>C (p.Gly4Arg) single nucleotide variant not provided [RCV002933384] Chr4:102344653 [GRCh38]
Chr4:103265810 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1049-12T>A single nucleotide variant not provided [RCV002597333] Chr4:102267686 [GRCh38]
Chr4:103188843 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.676-9C>G single nucleotide variant not provided [RCV002643867] Chr4:102304490 [GRCh38]
Chr4:103225647 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.360A>C (p.Lys120Asn) single nucleotide variant not provided [RCV002666728] Chr4:102315690 [GRCh38]
Chr4:103236847 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV002919010] Chr4:102344655 [GRCh38]
Chr4:103265812 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV002576110] Chr4:102344615 [GRCh38]
Chr4:103265772 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.167del (p.Gly56fs) deletion not provided [RCV002958215] Chr4:102344496 [GRCh38]
Chr4:103265653 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.165G>T (p.Met55Ile) single nucleotide variant not provided [RCV002928978] Chr4:102344498 [GRCh38]
Chr4:103265655 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.219+17C>A single nucleotide variant not provided [RCV002800907] Chr4:102344427 [GRCh38]
Chr4:103265584 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.82G>A (p.Ala28Thr) single nucleotide variant not provided [RCV002851236] Chr4:102344581 [GRCh38]
Chr4:103265738 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.676-4A>G single nucleotide variant Inborn genetic diseases [RCV002673553]|SLC39A8-related disorder [RCV003946356]|not provided [RCV003730262] Chr4:102304485 [GRCh38]
Chr4:103225642 [GRCh37]
Chr4:4q24
likely benign|uncertain significance
NM_001135146.2(SLC39A8):c.521T>C (p.Phe174Ser) single nucleotide variant not provided [RCV002807119] Chr4:102307467 [GRCh38]
Chr4:103228624 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.824G>T (p.Ser275Ile) single nucleotide variant not provided [RCV002961972] Chr4:102304333 [GRCh38]
Chr4:103225490 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.133G>T (p.Ala45Ser) single nucleotide variant not provided [RCV002601061] Chr4:102344530 [GRCh38]
Chr4:103265687 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1253T>C (p.Met418Thr) single nucleotide variant not provided [RCV002602012] Chr4:102263174 [GRCh38]
Chr4:103184331 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1049-10C>A single nucleotide variant not provided [RCV003086339] Chr4:102267684 [GRCh38]
Chr4:103188841 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.69G>A (p.Glu23=) single nucleotide variant not provided [RCV002833547] Chr4:102344594 [GRCh38]
Chr4:103265751 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.960G>C (p.Leu320=) single nucleotide variant not provided [RCV002580020] Chr4:102267960 [GRCh38]
Chr4:103189117 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.219+13G>A single nucleotide variant not provided [RCV002653489] Chr4:102344431 [GRCh38]
Chr4:103265588 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.676-18G>T single nucleotide variant not provided [RCV002604164] Chr4:102304499 [GRCh38]
Chr4:103225656 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1191A>G (p.Ala397=) single nucleotide variant not provided [RCV002604883] Chr4:102267532 [GRCh38]
Chr4:103188689 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1233+15A>G single nucleotide variant not provided [RCV002604005] Chr4:102267475 [GRCh38]
Chr4:103188632 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1049-13C>T single nucleotide variant not provided [RCV002586492] Chr4:102267687 [GRCh38]
Chr4:103188844 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1234-18A>G single nucleotide variant not provided [RCV002589132] Chr4:102263211 [GRCh38]
Chr4:103184368 [GRCh37]
Chr4:4q24
likely benign
NC_000004.11:g.(?_101947022)_(107268849_?)dup duplication not provided [RCV003154901] Chr4:101947022..107268849 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.689A>G (p.His230Arg) single nucleotide variant Inborn genetic diseases [RCV003203865] Chr4:102304468 [GRCh38]
Chr4:103225625 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.*1062C>T single nucleotide variant SLC39A8-CDG [RCV003136780] Chr4:102261982 [GRCh38]
Chr4:103183139 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln) single nucleotide variant SLC39A8-CDG [RCV003136779] Chr4:102263055 [GRCh38]
Chr4:103184212 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.716A>G (p.Gln239Arg) single nucleotide variant Inborn genetic diseases [RCV003263134] Chr4:102304441 [GRCh38]
Chr4:103225598 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.524C>G (p.Ser175Ter) single nucleotide variant not provided [RCV003329620] Chr4:102307464 [GRCh38]
Chr4:103228621 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.346C>T (p.Arg116Trp) single nucleotide variant Inborn genetic diseases [RCV003342704] Chr4:102315704 [GRCh38]
Chr4:103236861 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1 copy number loss not provided [RCV003485432] Chr4:100542119..103793167 [GRCh37]
Chr4:4q23-24
pathogenic
NM_001135146.2(SLC39A8):c.382+2T>C single nucleotide variant not provided [RCV003442377] Chr4:102315666 [GRCh38]
Chr4:103236823 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.309A>T (p.Ala103=) single nucleotide variant not provided [RCV003849704] Chr4:102315741 [GRCh38]
Chr4:103236898 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.99G>A (p.Val33=) single nucleotide variant not provided [RCV003839864] Chr4:102344564 [GRCh38]
Chr4:103265721 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.54C>G (p.Leu18=) single nucleotide variant not provided [RCV003838730] Chr4:102344609 [GRCh38]
Chr4:103265766 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.322T>C (p.Leu108=) single nucleotide variant not provided [RCV003832421] Chr4:102315728 [GRCh38]
Chr4:103236885 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1093G>A (p.Ala365Thr) single nucleotide variant not provided [RCV003558997] Chr4:102267630 [GRCh38]
Chr4:103188787 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.88A>G (p.Ser30Gly) single nucleotide variant not provided [RCV003728433] Chr4:102344575 [GRCh38]
Chr4:103265732 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1071T>C (p.Asn357=) single nucleotide variant not provided [RCV003861194] Chr4:102267652 [GRCh38]
Chr4:103188809 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.660A>G (p.Leu220=) single nucleotide variant not provided [RCV003866026] Chr4:102305004 [GRCh38]
Chr4:103226161 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.841-13G>T single nucleotide variant not provided [RCV003685042] Chr4:102268092 [GRCh38]
Chr4:103189249 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1 copy number loss not specified [RCV003986486] Chr4:99355670..107274288 [GRCh37]
Chr4:4q23-24
pathogenic
NM_001135146.2(SLC39A8):c.963G>A (p.Ala321=) single nucleotide variant not provided [RCV003731687] Chr4:102267957 [GRCh38]
Chr4:103189114 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1 copy number loss not specified [RCV003986501] Chr4:100172302..107880077 [GRCh37]
Chr4:4q23-25
pathogenic
NM_001135146.2(SLC39A8):c.190C>T (p.Pro64Ser) single nucleotide variant not provided [RCV003730052] Chr4:102344473 [GRCh38]
Chr4:103265630 [GRCh37]
Chr4:4q24
benign
NM_001135146.2(SLC39A8):c.1359T>C (p.Tyr453=) single nucleotide variant not provided [RCV003854148] Chr4:102263068 [GRCh38]
Chr4:103184225 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_001135147.1(SLC39A8):c.1267-4G>C single nucleotide variant SLC39A8-related disorder [RCV003957150] Chr4:102259518 [GRCh38]
Chr4:103180675 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.951C>T (p.Ile317=) single nucleotide variant SLC39A8-related disorder [RCV003946781] Chr4:102267969 [GRCh38]
Chr4:103189126 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1049-17TCT[6] microsatellite SLC39A8-related disorder [RCV003902229] Chr4:102267676..102267677 [GRCh38]
Chr4:103188833..103188834 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.1007C>A (p.Thr336Asn) single nucleotide variant Inborn genetic diseases [RCV004461602] Chr4:102267913 [GRCh38]
Chr4:103189070 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.880G>A (p.Gly294Arg) single nucleotide variant Inborn genetic diseases [RCV004461604] Chr4:102268040 [GRCh38]
Chr4:103189197 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1120T>A (p.Cys374Ser) single nucleotide variant SLC39A8-CDG [RCV004560485] Chr4:102267603 [GRCh38]
Chr4:103188760 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.876G>C (p.Leu292Phe) single nucleotide variant not provided [RCV004592409] Chr4:102268044 [GRCh38]
Chr4:103189201 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.495del (p.Phe165fs) deletion not provided [RCV004592101] Chr4:102307493 [GRCh38]
Chr4:103228650 [GRCh37]
Chr4:4q24
uncertain significance
NC_000004.11:g.(?_101947022)_(104640852_?)del deletion not provided [RCV004580833] Chr4:101947022..104640852 [GRCh37]
Chr4:4q24
pathogenic
NM_001135146.2(SLC39A8):c.902G>A (p.Gly301Glu) single nucleotide variant Inborn genetic diseases [RCV004674707] Chr4:102268018 [GRCh38]
Chr4:103189175 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.1301T>C (p.Met434Thr) single nucleotide variant Inborn genetic diseases [RCV004674708] Chr4:102263126 [GRCh38]
Chr4:103184283 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.513G>T (p.Gly171=) single nucleotide variant not specified [RCV004702730] Chr4:102307475 [GRCh38]
Chr4:103228632 [GRCh37]
Chr4:4q24
likely benign
NM_001135146.2(SLC39A8):c.781G>A (p.Ala261Thr) single nucleotide variant not provided [RCV004767954] Chr4:102304376 [GRCh38]
Chr4:103225533 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.863del (p.Ser288fs) deletion not provided [RCV004767955] Chr4:102268057 [GRCh38]
Chr4:103189214 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.227C>T (p.Thr76Ile) single nucleotide variant not specified [RCV004702719] Chr4:102315823 [GRCh38]
Chr4:103236980 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.220-1G>T single nucleotide variant not provided [RCV004775205] Chr4:102315831 [GRCh38]
Chr4:103236988 [GRCh37]
Chr4:4q24
uncertain significance
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs) deletion SLC39A8-CDG [RCV002471570] Chr4:102344635..102344647 [GRCh38]
Chr4:103265792..103265804 [GRCh37]
Chr4:4q24
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2482
Count of miRNA genes:1020
Interacting mature miRNAs:1227
Transcripts:ENST00000356736, ENST00000394833, ENST00000424970, ENST00000502903, ENST00000510255, ENST00000512337, ENST00000512657, ENST00000514000
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407288903GWAS937879_Hneuroimaging measurement QTL GWAS937879 (human)7e-39neuroimaging measurement4102267552102267553Human
407263303GWAS912279_Hneuroimaging measurement QTL GWAS912279 (human)2e-11argininate measurementserum gamma-glutamyltransferase activity level (CMO:0002241)4102267552102267553Human
407356482GWAS1005458_Hhigh density lipoprotein cholesterol measurement QTL GWAS1005458 (human)3e-26high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407353922GWAS1002898_Hvery low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1002898 (human)7e-16very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)4102267552102267553Human
407388237GWAS1037213_Hbrain volume measurement QTL GWAS1037213 (human)1e-49brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407212098GWAS861074_Hprotein kinase C-binding protein NELL1 measurement QTL GWAS861074 (human)8e-13BMI-adjusted waist-hip ratiobody fat percentage (CMO:0000302)4102267552102267553Human
407382592GWAS1031568_Hblood protein measurement QTL GWAS1031568 (human)6e-63blood protein measurementblood protein measurement (CMO:0000028)4102267552102267553Human
406893642GWAS542618_Hdiastolic blood pressure QTL GWAS542618 (human)5e-33diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
407150158GWAS799134_Hneuroimaging measurement, brain volume measurement QTL GWAS799134 (human)1e-23phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407057480GWAS706456_Hintelligence QTL GWAS706456 (human)3e-08intelligence4102295625102295626Human
407381573GWAS1030549_Hblood protein measurement QTL GWAS1030549 (human)2e-95blood protein measurementblood protein measurement (CMO:0000028)4102267552102267553Human
407286856GWAS935832_Hneuroimaging measurement QTL GWAS935832 (human)2e-39brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407354952GWAS1003928_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1003928 (human)9e-25free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407357512GWAS1006488_Hcortical thickness QTL GWAS1006488 (human)0.0000002cortical thickness4102267552102267553Human
407212106GWAS861082_Hbifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 measurement QTL GWAS861082 (human)9e-17phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407388251GWAS1037227_Hbrain volume measurement QTL GWAS1037227 (human)3e-104brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407252562GWAS901538_Hdiastolic blood pressure QTL GWAS901538 (human)9e-21diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
407000151GWAS649127_Hhematocrit QTL GWAS649127 (human)2e-40hematocrithematocrit (CMO:0000037)4102267552102267553Human
407355474GWAS1004450_HBMI-adjusted waist circumference QTL GWAS1004450 (human)1e-08BMI-adjusted waist circumference4102270630102270631Human
407090777GWAS739753_Hlow density lipoprotein cholesterol measurement QTL GWAS739753 (human)1e-10cortical thicknessmean corpuscular volume (CMO:0000038)4102267552102267553Human
407388244GWAS1037220_Hbrain volume measurement QTL GWAS1037220 (human)2e-103brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407041631GWAS690607_Hsitting height ratio QTL GWAS690607 (human)0.000004sitting height ratio4102283688102283689Human
407355992GWAS1004968_Hhigh density lipoprotein cholesterol measurement QTL GWAS1004968 (human)6e-80high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407028834GWAS677810_Hamygdala volume QTL GWAS677810 (human)4e-10amygdala volumebrain weight to body weight ratio (CMO:0000139)4102270630102270631Human
407042145GWAS691121_Hbody mass index QTL GWAS691121 (human)0.000002physical activity measurementvoluntary body movement measurement (CMO:0000954)4102267552102267553Human
407082592GWAS731568_Hsystolic blood pressure QTL GWAS731568 (human)1e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)4102267552102267553Human
407352419GWAS1001395_Hamygdala volume QTL GWAS1001395 (human)5e-41amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407352418GWAS1001394_Hamygdala volume QTL GWAS1001394 (human)1e-84amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407136355GWAS785331_Hhigh density lipoprotein cholesterol measurement QTL GWAS785331 (human)7e-11grip strength measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407026282GWAS675258_Hamygdala volume QTL GWAS675258 (human)3e-09amygdala volumebrain weight to body weight ratio (CMO:0000139)4102304790102304791Human
407026283GWAS675259_Hamygdala volume QTL GWAS675259 (human)2e-15amygdala volumebrain weight to body weight ratio (CMO:0000139)4102312050102312051Human
407026280GWAS675256_Hamygdala volume QTL GWAS675256 (human)7e-17amygdala volumebrain weight to body weight ratio (CMO:0000139)4102283201102283202Human
407386724GWAS1035700_Hmetabolite measurement QTL GWAS1035700 (human)3e-37metabolite measurement4102267552102267553Human
407026286GWAS675262_Hamygdala volume QTL GWAS675262 (human)6e-21amygdala volumebrain weight to body weight ratio (CMO:0000139)4102320791102320792Human
407268459GWAS917435_Halcohol consumption measurement QTL GWAS917435 (human)2e-22blood lipid amount (VT:0003949)body mass index (BMI) (CMO:0000105)4102267552102267553Human
407316586GWAS965562_Hopioid use disorder QTL GWAS965562 (human)4e-10conditioned place preference behavior trait (VT:0010723)4102276925102276926Human
407026284GWAS675260_Hamygdala volume QTL GWAS675260 (human)1e-09amygdala volumebrain weight to body weight ratio (CMO:0000139)4102312454102312455Human
407233642GWAS882618_Htotal lipids in HDL measurement QTL GWAS882618 (human)6e-18total lipids in HDL measurement 4102267552102267553Human
407067244GWAS716220_Hschizophrenia, anorexia nervosa QTL GWAS716220 (human)6e-09schizophrenia, anorexia nervosa4102276925102276926Human
407285873GWAS934849_Hgrip strength measurement QTL GWAS934849 (human)4e-23neuroimaging measurement4102267552102267553Human
407209597GWAS858573_Hcognitive function measurement QTL GWAS858573 (human)3e-10cognitive function measurement4102276925102276926Human
407086201GWAS735177_Hbalding measurement QTL GWAS735177 (human)4e-20balding measurementcoat/hair morphological measurement (CMO:0001807)4102267552102267553Human
407215231GWAS864207_Hbrain volume measurement QTL GWAS864207 (human)2e-20brain volume measurementbrain morphological measurement (CMO:0000136)4102276925102276926Human
406985854GWAS634830_Hbitter alcoholic beverage consumption measurement QTL GWAS634830 (human)3e-14multisite chronic paindrink intake measurement (CMO:0000771)4102276925102276926Human
407026690GWAS675666_Hamygdala volume QTL GWAS675666 (human)1e-12amygdala volumebrain weight to body weight ratio (CMO:0000139)4102320791102320792Human
407353349GWAS1002325_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1002325 (human)9e-23free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407026688GWAS675664_Hamygdala volume QTL GWAS675664 (human)6e-12amygdala volumebrain weight to body weight ratio (CMO:0000139)4102283201102283202Human
406897668GWAS546644_Hfornix volume measurement QTL GWAS546644 (human)1e-18fornix volume measurement4102276925102276926Human
407197696GWAS846672_Hcyclic AMP-dependent transcription factor ATF-6 alpha measurement QTL GWAS846672 (human)1e-19cortical thickness4102267552102267553Human
407404559GWAS1053535_Hobsolete_red blood cell distribution width QTL GWAS1053535 (human)6e-11obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)4102326283102326284Human
406960139GWAS609115_Hbody mass index QTL GWAS609115 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)4102312050102312051Human
407388163GWAS1037139_Hneuroimaging measurement QTL GWAS1037139 (human)9e-52neuroimaging measurement4102267552102267553Human
406960138GWAS609114_Hbody mass index QTL GWAS609114 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)4102269072102269073Human
407388166GWAS1037142_Hneuroimaging measurement QTL GWAS1037142 (human)5e-97neuroimaging measurement4102267552102267553Human
407351830GWAS1000806_Htriglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1000806 (human)8e-15triglycerides:total lipids ratio, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)4102267552102267553Human
407352339GWAS1001315_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1001315 (human)7e-17mean arterial pressuremean arterial blood pressure (CMO:0000009)4102267552102267553Human
407047190GWAS696166_Halcohol use disorder measurement QTL GWAS696166 (human)7e-34alcohol use disorder measurement4102276925102276926Human
407351839GWAS1000815_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1000815 (human)6e-09post-traumatic stress disorderblood low density lipoprotein cholesterol level (CMO:0000053)4102267552102267553Human
407291935GWAS940911_Halcohol consumption measurement QTL GWAS940911 (human)0.000004alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102263082102263083Human
407094297GWAS743273_Hrisk-taking behaviour QTL GWAS743273 (human)3e-11risk-taking behaviour4102276925102276926Human
406992925GWAS641901_Halcohol dependence measurement QTL GWAS641901 (human)5e-15alcohol dependence measurement4102276925102276926Human
407219748GWAS868724_Hschizophrenia QTL GWAS868724 (human)9e-13schizophrenia4102276925102276926Human
407378991GWAS1027967_Hcalcium measurement QTL GWAS1027967 (human)3e-48calcium measurementblood calcium level (CMO:0000502)4102267552102267553Human
407258657GWAS907633_Htaste liking measurement QTL GWAS907633 (human)8e-13taste liking measurement4102276925102276926Human
407216686GWAS865662_Hapolipoprotein A 1 measurement QTL GWAS865662 (human)2e-16blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407376932GWAS1025908_Hneuroimaging measurement QTL GWAS1025908 (human)6e-169neuroimaging measurement4102267552102267553Human
407203883GWAS852859_Halcohol consumption measurement QTL GWAS852859 (human)3e-59alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102267552102267553Human
407286839GWAS935815_Hneuroimaging measurement QTL GWAS935815 (human)1e-42neuroimaging measurement4102267552102267553Human
406927920GWAS576896_HHDL cholesterol change measurement, physical activity QTL GWAS576896 (human)5e-19HDL cholesterol change measurement, physical activityblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407078961GWAS727937_Htriglyceride measurement QTL GWAS727937 (human)6e-15triglyceride measurementblood triglyceride level (CMO:0000118)4102267552102267553Human
407350837GWAS999813_Hsphingomyelin measurement QTL GWAS999813 (human)5e-16sphingomyelin measurement4102267552102267553Human
407383098GWAS1032074_Hsystolic blood pressure QTL GWAS1032074 (human)5e-36systolic blood pressuresystolic blood pressure (CMO:0000004)4102267552102267553Human
406986800GWAS635776_Hgrip strength measurement QTL GWAS635776 (human)3e-26grip strength measurement4102276925102276926Human
407282229GWAS931205_Hsleep duration QTL GWAS931205 (human)3e-13cortical thicknessblood very low density lipoprotein cholesterol level (CMO:0000648)4102267552102267553Human
407363124GWAS1012100_Hbrain connectivity measurement QTL GWAS1012100 (human)3e-35brain connectivity measurement4102267552102267553Human
406897717GWAS546693_Hbrain age measurement QTL GWAS546693 (human)1e-13brain morphology trait (VT:0002152)4102276925102276926Human
406914615GWAS563591_Hlow density lipoprotein cholesterol measurement QTL GWAS563591 (human)0.000008body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407026228GWAS675204_Hamygdala volume QTL GWAS675204 (human)1e-13amygdala volumebrain weight to body weight ratio (CMO:0000139)4102269072102269073Human
406947895GWAS596871_Halcohol consumption measurement QTL GWAS596871 (human)2e-35alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102276925102276926Human
407388223GWAS1037199_Hneuroimaging measurement QTL GWAS1037199 (human)4e-37neuroimaging measurement4102267552102267553Human
407393840GWAS1042816_Hserum albumin measurement QTL GWAS1042816 (human)8e-33serum albumin measurementserum albumin level (CMO:0000550)4102267552102267553Human
407390257GWAS1039233_Htotal cholesterol measurement QTL GWAS1039233 (human)6e-45total cholesterol measurementblood total cholesterol level (CMO:0000051)4102267552102267553Human
406995515GWAS644491_Hintelligence QTL GWAS644491 (human)5e-11intelligence4102278610102278611Human
407023166GWAS672142_Heducational attainment QTL GWAS672142 (human)4e-58educational attainment4102276925102276926Human
407352378GWAS1001354_Hhigh density lipoprotein cholesterol measurement QTL GWAS1001354 (human)5e-118high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407382582GWAS1031558_Hblood protein measurement QTL GWAS1031558 (human)1e-62blood protein measurementblood protein measurement (CMO:0000028)4102267552102267553Human
407286841GWAS935817_Hneuroimaging measurement QTL GWAS935817 (human)2e-41neuroimaging measurement4102267552102267553Human
407398967GWAS1047943_Hschizophrenia QTL GWAS1047943 (human)3e-23schizophrenia4102267552102267553Human
407354054GWAS1003030_Hamygdala volume QTL GWAS1003030 (human)7e-99amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
406892738GWAS541714_Hbody mass index QTL GWAS541714 (human)4e-16free cholesterol in very large HDL measurement blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407327429GWAS976405_Hneuroimaging measurement QTL GWAS976405 (human)1e-30white matter microstructure measurement4102267552102267553Human
406981319GWAS630295_Hvital capacity QTL GWAS630295 (human)9e-18triglyceride:HDL cholesterol ratio4102267552102267553Human
407359178GWAS1008154_Hosteoarthritis QTL GWAS1008154 (human)6e-17osteoarthritis4102267552102267553Human
407192267GWAS841243_Hmyelin protein P0 measurement QTL GWAS841243 (human)3e-25myelin protein P0 measurement4102267552102267553Human
407351496GWAS1000472_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1000472 (human)1e-22cortical thicknessblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407098579GWAS747555_Halcohol consumption measurement QTL GWAS747555 (human)7e-09free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407328469GWAS977445_Hbrain volume measurement QTL GWAS977445 (human)4e-18amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407149783GWAS798759_Hneuroimaging measurement, brain volume measurement QTL GWAS798759 (human)5e-73neuroimaging measurement, brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407212753GWAS861729_Hintelligence QTL GWAS861729 (human)5e-23intelligence4102267552102267553Human
407004375GWAS653351_Hhemoglobin measurement QTL GWAS653351 (human)7e-32hemoglobin measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
407345375GWAS994351_Hsleep duration QTL GWAS994351 (human)5e-10sleep duration4102307673102307674Human
407380690GWAS1029666_Hserum homoarginine measurement QTL GWAS1029666 (human)5e-19serum homoarginine measurement4102267552102267553Human
407396562GWAS1045538_Hcortical thickness QTL GWAS1045538 (human)6e-175cortical thickness4102267552102267553Human
407354588GWAS1003564_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1003564 (human)5e-22free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
406998751GWAS647727_Hintelligence QTL GWAS647727 (human)8e-17intelligence4102267552102267553Human
407354073GWAS1003049_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS1003049 (human)4e-26blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407166692GWAS815668_Hosteoarthritis QTL GWAS815668 (human)8e-19cortical thicknessblood protein measurement (CMO:0000028)4102267552102267553Human
407076579GWAS725555_Hbrain volume measurement QTL GWAS725555 (human)2e-18cortical thicknessbrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407082210GWAS731186_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS731186 (human)1e-29alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407380716GWAS1029692_Hhigh density lipoprotein cholesterol measurement QTL GWAS1029692 (human)2e-57high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407114476GWAS763452_Hmean corpuscular volume QTL GWAS763452 (human)2e-09mean corpuscular volumemean corpuscular volume (CMO:0000038)4102310770102310771Human
407081711GWAS730687_Hintelligence QTL GWAS730687 (human)6e-10intelligence4102269072102269073Human
407096046GWAS745022_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS745022 (human)2e-32alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
406986477GWAS635453_Hintelligence QTL GWAS635453 (human)2e-09intelligence4102269072102269073Human
407257335GWAS906311_Hfree cholesterol in HDL measurement QTL GWAS906311 (human)5e-18free cholesterol in HDL measurement 4102267552102267553Human
407387390GWAS1036366_Hbrain volume measurement QTL GWAS1036366 (human)1e-43brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407387391GWAS1036367_Hbrain volume measurement QTL GWAS1036367 (human)6e-27brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407380720GWAS1029696_Halcohol consumption measurement QTL GWAS1029696 (human)6e-36alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102267552102267553Human
407380722GWAS1029698_Halcohol consumption measurement QTL GWAS1029698 (human)6e-40alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102267552102267553Human
407176446GWAS825422_Htriglyceride measurement QTL GWAS825422 (human)2e-27triglyceride measurementblood triglyceride level (CMO:0000118)4102267552102267553Human
407352059GWAS1001035_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1001035 (human)9e-14lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407380724GWAS1029700_Halcohol consumption measurement QTL GWAS1029700 (human)7e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)4102267552102267553Human
407260922GWAS909898_Hbrain volume measurement QTL GWAS909898 (human)3e-17brain volume measurementbrain morphological measurement (CMO:0000136)4102276925102276926Human
407162106GWAS811082_Hbody mass index QTL GWAS811082 (human)2e-13BMI-adjusted waist circumferenceblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407354616GWAS1003592_Hcalcium measurement QTL GWAS1003592 (human)5e-42calcium measurementblood calcium level (CMO:0000502)4102267552102267553Human
407392904GWAS1041880_Haspartate aminotransferase measurement QTL GWAS1041880 (human)3e-42aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)4102267552102267553Human
406924416GWAS573392_Htotal cholesterol measurement QTL GWAS573392 (human)1e-09taste liking measurementblood uric acid level (CMO:0000501)4102267552102267553Human
407272068GWAS921044_Hbody height QTL GWAS921044 (human)4e-39body height (VT:0001253)body height (CMO:0000106)4102252592102252593Human
407008903GWAS657879_Hintelligence QTL GWAS657879 (human)3e-18neuroimaging measurement4102267552102267553Human
406984327GWAS633303_Hcortical thickness, neuroimaging measurement QTL GWAS633303 (human)9e-12cortical thickness, neuroimaging measurement4102276925102276926Human
407297664GWAS946640_Hbody mass index QTL GWAS946640 (human)5e-40body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407070347GWAS719323_Hdiastolic blood pressure, alcohol drinking QTL GWAS719323 (human)2e-23lipid measurement, high density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)4102267552102267553Human
406924426GWAS573402_Htotal cholesterol measurement QTL GWAS573402 (human)5e-11neuroimaging measurementsystolic blood pressure (CMO:0000004)4102267552102267553Human
406948490GWAS597466_Halcohol use disorder measurement QTL GWAS597466 (human)2e-31alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407161481GWAS810457_Hsystolic blood pressure QTL GWAS810457 (human)3e-14cortical thicknessblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407100046GWAS749022_HBMI-adjusted waist-hip ratio QTL GWAS749022 (human)3e-19cortical thicknessbrain morphological measurement (CMO:0000136)4102267552102267553Human
407265929GWAS914905_Hrotator cuff tear, shoulder impingement syndrome QTL GWAS914905 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407085714GWAS734690_Halcohol consumption measurement QTL GWAS734690 (human)1e-24free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
406916755GWAS565731_Hhigh density lipoprotein cholesterol measurement QTL GWAS565731 (human)6e-21neuroimaging measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407354003GWAS1002979_Hbrain measurement QTL GWAS1002979 (human)6e-125brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
406886549GWAS535525_Hcardiovascular disease biomarker measurement QTL GWAS535525 (human)6e-10urate measurementblood uric acid level (CMO:0000501)4102267552102267553Human
406916756GWAS565732_Hhigh density lipoprotein cholesterol measurement QTL GWAS565732 (human)6e-22blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407305875GWAS954851_Halcohol use disorder measurement, longitudinal alcohol consumption measurement QTL GWAS954851 (human)1e-25neuroticism measurement, cognitive function measurementbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407378576GWAS1027552_Htotal cholesterol measurement QTL GWAS1027552 (human)1e-34total cholesterol measurementblood total cholesterol level (CMO:0000051)4102267552102267553Human
407035544GWAS684520_Hphysical activity measurement, body mass index QTL GWAS684520 (human)2e-08pulse pressure measurementpulse pressure (CMO:0000292)4102267552102267553Human
407350941GWAS999917_Hesterified cholesterol measurement QTL GWAS999917 (human)5e-08blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)4102267552102267553Human
407275687GWAS924663_Hhigh density lipoprotein cholesterol measurement QTL GWAS924663 (human)2e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407178919GWAS827895_Hdiastolic blood pressure QTL GWAS827895 (human)6e-54diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
406904483GWAS553459_Hsystolic blood pressure QTL GWAS553459 (human)2e-21intelligencesystolic blood pressure (CMO:0000004)4102267552102267553Human
407076518GWAS725494_Hrisk-taking behaviour QTL GWAS725494 (human)4e-13neuroimaging measurement4102267552102267553Human
407362210GWAS1011186_Hsleep duration QTL GWAS1011186 (human)4e-12brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
407362209GWAS1011185_Hsleep duration QTL GWAS1011185 (human)9e-12neuroimaging measurement4102267552102267553Human
407002789GWAS651765_Hhemoglobin measurement QTL GWAS651765 (human)1e-37neuroimaging measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
407389346GWAS1038322_Hdiastolic blood pressure QTL GWAS1038322 (human)2e-43diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
406986408GWAS635384_Hintelligence QTL GWAS635384 (human)1e-09intelligence4102290097102290098Human
407326892GWAS975868_Hneuroimaging measurement QTL GWAS975868 (human)5e-67neuroimaging measurement4102267552102267553Human
407259309GWAS908285_Hinflammatory bowel disease QTL GWAS908285 (human)0.000001inflammatory bowel disease4102267552102267553Human
406979759GWAS628735_Hintelligence QTL GWAS628735 (human)3e-11intelligence4102307673102307674Human
407326889GWAS975865_Hneuroimaging measurement QTL GWAS975865 (human)6e-53neuroimaging measurement4102267552102267553Human
407354537GWAS1003513_Hbrain measurement QTL GWAS1003513 (human)7e-74brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
406942383GWAS591359_Hintelligence QTL GWAS591359 (human)2e-09intelligence4102307673102307674Human
407076017GWAS724993_Hbrain volume measurement QTL GWAS724993 (human)7e-14brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407027383GWAS676359_Hsystolic blood pressure QTL GWAS676359 (human)0.0000001body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407126705GWAS775681_Hdiastolic blood pressure QTL GWAS775681 (human)2e-14serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)4102267552102267553Human
407327423GWAS976399_Hneuroimaging measurement QTL GWAS976399 (human)2e-28neuroimaging measurement4102267552102267553Human
407387313GWAS1036289_Halcohol consumption measurement QTL GWAS1036289 (human)2e-56alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102267552102267553Human
407071417GWAS720393_Hdiastolic blood pressure, alcohol drinking QTL GWAS720393 (human)4e-22phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407352509GWAS1001485_Hphospholipid measurement QTL GWAS1001485 (human)7e-10white matter microstructure measurement4102267552102267553Human
407219903GWAS868879_Hargininate measurement QTL GWAS868879 (human)7e-19cortical thickness4102267552102267553Human
406948027GWAS597003_Halcohol use disorder measurement, alcohol consumption measurement QTL GWAS597003 (human)3e-42alcohol use disorder measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102276925102276926Human
407001790GWAS650766_Hhemoglobin measurement QTL GWAS650766 (human)1e-38hemoglobin measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
407073468GWAS722444_Halcohol consumption measurement QTL GWAS722444 (human)5e-17brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
407351620GWAS1000596_Hfatty acid measurement QTL GWAS1000596 (human)9e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)4102267552102267553Human
406970690GWAS619666_Herythrocyte cadmium measurement QTL GWAS619666 (human)0.0000003erythrocyte cadmium measurement4102334535102334536Human
407387981GWAS1036957_Hcortical thickness QTL GWAS1036957 (human)6e-16cortical thickness4102267552102267553Human
407258956GWAS907932_Hverbal-numerical reasoning measurement QTL GWAS907932 (human)8e-17verbal-numerical reasoning measurement4102276925102276926Human
407387992GWAS1036968_Hneuroimaging measurement QTL GWAS1036968 (human)1e-80neuroimaging measurement4102267552102267553Human
407058258GWAS707234_Hsystolic blood pressure, alcohol drinking QTL GWAS707234 (human)1e-15blood lipid amount (VT:0003949)blood uric acid level (CMO:0000501)4102267552102267553Human
407316821GWAS965797_Hdiet measurement QTL GWAS965797 (human)7e-10diet measurementfood intake measurement (CMO:0000772)4102276925102276926Human
407053648GWAS702624_HBMI-adjusted waist-hip ratio QTL GWAS702624 (human)4e-19lipid measurement, high density lipoprotein cholesterol measurementblood lipid measurement (CMO:0000050)4102267552102267553Human
407352147GWAS1001123_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1001123 (human)3e-12argininate measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407356242GWAS1005218_Hbrain measurement QTL GWAS1005218 (human)2e-54brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
407069012GWAS717988_Hbody mass index QTL GWAS717988 (human)4e-47body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407387472GWAS1036448_Hbrain volume measurement QTL GWAS1036448 (human)3e-30brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407161694GWAS810670_Hdiastolic blood pressure QTL GWAS810670 (human)2e-17body height (VT:0001253)body height (CMO:0000106)4102267552102267553Human
406978395GWAS627371_Haspartate aminotransferase measurement QTL GWAS627371 (human)2e-12aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)4102268971102268972Human
406909786GWAS558762_Hlow density lipoprotein cholesterol measurement QTL GWAS558762 (human)0.000007low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)4102276925102276926Human
407387475GWAS1036451_Hbrain volume measurement QTL GWAS1036451 (human)7e-31brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
406909787GWAS558763_Hlow density lipoprotein cholesterol measurement QTL GWAS558763 (human)0.000003low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)4102276925102276926Human
407161688GWAS810664_Hhypertension QTL GWAS810664 (human)0.0000005hypertension4102267552102267553Human
407095646GWAS744622_Hhemoglobin measurement QTL GWAS744622 (human)2e-24cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)4102267552102267553Human
407387989GWAS1036965_Hneuroimaging measurement QTL GWAS1036965 (human)7e-77neuroimaging measurement4102267552102267553Human
407387477GWAS1036453_Hbrain volume measurement QTL GWAS1036453 (human)4e-49brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407387990GWAS1036966_Hneuroimaging measurement QTL GWAS1036966 (human)3e-15neuroimaging measurement4102267552102267553Human
407387479GWAS1036455_Hbrain volume measurement QTL GWAS1036455 (human)1e-93brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407035741GWAS684717_Hbody mass index QTL GWAS684717 (human)2e-15body mass indexbody mass index (BMI) (CMO:0000105)4102292205102292206Human
407040358GWAS689334_Hbody mass index QTL GWAS689334 (human)0.0000004body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
406891364GWAS540340_Hinitial pursuit acceleration QTL GWAS540340 (human)0.000006initial pursuit acceleration4102271086102271087Human
406981989GWAS630965_Hdiastolic blood pressure QTL GWAS630965 (human)9e-10chronic musculoskeletal paindiastolic blood pressure (CMO:0000005)4102267552102267553Human
407363439GWAS1012415_Hbody mass index QTL GWAS1012415 (human)4e-38body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407151470GWAS800446_Hplatelet component distribution width QTL GWAS800446 (human)1e-29amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407319405GWAS968381_Hschizophrenia QTL GWAS968381 (human)5e-09schizophrenia4102267552102267553Human
406938474GWAS587450_Hsmoking behavior, body mass index QTL GWAS587450 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)4102267552102267553Human
407387492GWAS1036468_Hneuroimaging measurement QTL GWAS1036468 (human)3e-22alcohol use disorder measurement4102267552102267553Human
406894447GWAS543423_Hhigh density lipoprotein cholesterol measurement QTL GWAS543423 (human)2e-19body fat mass (VT:0010482)total body fat mass (CMO:0000305)4102276925102276926Human
406958958GWAS607934_Hhigh density lipoprotein cholesterol measurement QTL GWAS607934 (human)3e-13serum albumin measurementserum albumin level (CMO:0000550)4102276925102276926Human
406894448GWAS543424_Hhigh density lipoprotein cholesterol measurement QTL GWAS543424 (human)7e-21high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407219063GWAS868039_Htotal lipids in medium HDL measurement QTL GWAS868039 (human)9e-15alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102267552102267553Human
407210358GWAS859334_Hbody mass index QTL GWAS859334 (human)4e-46body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407073654GWAS722630_HParkinson disease QTL GWAS722630 (human)7e-08Parkinson disease4102267552102267553Human
407418749GWAS1067725_Hsystolic blood pressure QTL GWAS1067725 (human)6e-59systolic blood pressuresystolic blood pressure (CMO:0000004)4102267552102267553Human
407282547GWAS931523_Htaste liking measurement QTL GWAS931523 (human)7e-09taste liking measurement4102276925102276926Human
406944628GWAS593604_Hobese body mass index status QTL GWAS593604 (human)1e-08taste liking measurementbody mass index (BMI) (CMO:0000105)4102276925102276926Human
407097204GWAS746180_Hskin aging measurement QTL GWAS746180 (human)1e-12enzyme/coenzyme activity trait (VT:0005584)both kidneys wet weight to body weight ratio (CMO:0000340)4102267552102267553Human
407389567GWAS1038543_Hbrain measurement, neuroimaging measurement QTL GWAS1038543 (human)5e-324brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)4102267552102267553Human
407380853GWAS1029829_Hlow density lipoprotein cholesterol measurement QTL GWAS1029829 (human)9e-29low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)4102267552102267553Human
407261561GWAS910537_Hmultisite chronic pain QTL GWAS910537 (human)2e-09ceramide measurement4102276925102276926Human
407013634GWAS662610_Hphysical activity measurement, body mass index QTL GWAS662610 (human)8e-10neuroimaging measurementserum alanine aminotransferase activity level (CMO:0000575)4102267552102267553Human
407013632GWAS662608_Hphysical activity measurement, body mass index QTL GWAS662608 (human)5e-10mathematical abilityblood triglyceride level (CMO:0000118)4102267552102267553Human
407354117GWAS1003093_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1003093 (human)6e-14cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407387916GWAS1036892_Hwhite matter microstructure measurement QTL GWAS1036892 (human)3e-31white matter microstructure measurement4102267552102267553Human
407198976GWAS847952_Hosteoarthritis, knee QTL GWAS847952 (human)9e-08osteoarthritis, knee4102267552102267553Human
406916868GWAS565844_HBack pain QTL GWAS565844 (human)3e-08sexual dimorphism measurement4102276925102276926Human
407083781GWAS732757_Hbody fat percentage QTL GWAS732757 (human)4e-10Agents acting on the renin-angiotensin system use measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407387392GWAS1036368_Hbrain volume measurement QTL GWAS1036368 (human)1e-119brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407218445GWAS867421_Hphospholipids in medium HDL measurement QTL GWAS867421 (human)5e-13neuroimaging measurement4102267552102267553Human
407387393GWAS1036369_Hbrain volume measurement QTL GWAS1036369 (human)2e-115brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407387394GWAS1036370_Hbrain volume measurement QTL GWAS1036370 (human)2e-25brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407395075GWAS1044051_Htriglyceride measurement QTL GWAS1044051 (human)2e-37triglyceride measurementblood triglyceride level (CMO:0000118)4102267552102267553Human
407387395GWAS1036371_Hbrain volume measurement QTL GWAS1036371 (human)4e-21brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407387396GWAS1036372_Hbrain volume measurement QTL GWAS1036372 (human)5e-34brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407354123GWAS1003099_Hamygdala volume QTL GWAS1003099 (human)8e-26amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407386392GWAS1035368_Hmetabolite measurement QTL GWAS1035368 (human)3e-20metabolite measurement4102267552102267553Human
406918929GWAS567905_Hbipolar disorder QTL GWAS567905 (human)2e-08bipolar disorder4102276925102276926Human
407384859GWAS1033835_Hblood protein measurement QTL GWAS1033835 (human)4e-24hematocrithematocrit (CMO:0000037)4102267552102267553Human
407353620GWAS1002596_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1002596 (human)3e-11systolic blood pressuresystolic blood pressure (CMO:0000004)4102267552102267553Human
407149840GWAS798816_Hbrain measurement, neuroimaging measurement QTL GWAS798816 (human)3e-124brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)4102267552102267553Human
406893335GWAS542311_Hpain QTL GWAS542311 (human)0.000008pain4102262353102262354Human
407321375GWAS970351_Hliver fat measurement, liver disease biomarker QTL GWAS970351 (human)1e-133liver lipid amount (VT:0010764)liver fat morphological measurement (CMO:0002187)4102267552102267553Human
407108891GWAS757867_Herythrocyte count QTL GWAS757867 (human)2e-12erythrocyte countred blood cell count (CMO:0000025)4102307673102307674Human
407093530GWAS742506_Hlifestyle measurement QTL GWAS742506 (human)2e-12neuroimaging measurementbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407394578GWAS1043554_Hhigh density lipoprotein cholesterol measurement QTL GWAS1043554 (human)1e-185high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407089432GWAS738408_Hapolipoprotein A 1 measurement QTL GWAS738408 (human)5e-82apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)4102267552102267553Human
407149850GWAS798826_Hcortical thickness, neuroimaging measurement QTL GWAS798826 (human)8e-38cortical thickness, neuroimaging measurement4102267552102267553Human
407364376GWAS1013352_Hblood protein measurement QTL GWAS1013352 (human)3e-36blood protein measurementblood protein measurement (CMO:0000028)4102267552102267553Human
406937886GWAS586862_Hsmoking behavior, body mass index QTL GWAS586862 (human)3e-10triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)4102267552102267553Human
407336741GWAS985717_Hbody height QTL GWAS985717 (human)3e-28body height (VT:0001253)brain morphological measurement (CMO:0000136)4102267552102267553Human
407307045GWAS956021_Halcohol use disorder measurement, longitudinal alcohol consumption measurement QTL GWAS956021 (human)2e-30brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407381805GWAS1030781_Hhandedness QTL GWAS1030781 (human)5e-14handedness4102267552102267553Human
407257889GWAS906865_Hanthropometric measurement QTL GWAS906865 (human)3e-43anthropometric measurementbody morphological measurement (CMO:0000021)4102267552102267553Human
407247649GWAS896625_Hschizophrenia QTL GWAS896625 (human)6e-11schizophrenia4102276925102276926Human
407328044GWAS977020_Hbrain volume measurement QTL GWAS977020 (human)1e-18brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407316780GWAS965756_Halcohol consumption measurement QTL GWAS965756 (human)3e-29alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102276925102276926Human
407087411GWAS736387_Hhigh density lipoprotein cholesterol measurement QTL GWAS736387 (human)2e-108high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407089971GWAS738947_Hbrain volume measurement QTL GWAS738947 (human)2e-15blood protein measurementblood protein measurement (CMO:0000028)4102267552102267553Human
407111991GWAS760967_Hhypertension QTL GWAS760967 (human)5e-12hypertension4102267552102267553Human
407072560GWAS721536_Hvisceral adipose tissue measurement QTL GWAS721536 (human)7e-13visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)4102276925102276926Human
407388466GWAS1037442_Hgalectin-3 measurement QTL GWAS1037442 (human)4e-09galectin-3 measurement4102265468102265469Human
407081273GWAS730249_Hdiastolic blood pressure QTL GWAS730249 (human)8e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
407355197GWAS1004173_Hhemoglobin measurement QTL GWAS1004173 (human)4e-25hemoglobin measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
407025982GWAS674958_Hamygdala volume QTL GWAS674958 (human)9e-13amygdala volumebrain weight to body weight ratio (CMO:0000139)4102312050102312051Human
407025981GWAS674957_Hamygdala volume QTL GWAS674957 (human)4e-13amygdala volumebrain weight to body weight ratio (CMO:0000139)4102271086102271087Human
407261497GWAS910473_Hbrain volume measurement QTL GWAS910473 (human)5e-12brain volume measurementbrain morphological measurement (CMO:0000136)4102276925102276926Human
407353799GWAS1002775_Hamygdala volume QTL GWAS1002775 (human)5e-10amygdala volumebrain weight to body weight ratio (CMO:0000139)4102263082102263083Human
407353798GWAS1002774_Hamygdala volume QTL GWAS1002774 (human)8e-44amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407353796GWAS1002772_Hamygdala volume QTL GWAS1002772 (human)4e-29amygdala volumebrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407214529GWAS863505_Hbody mass index QTL GWAS863505 (human)2e-94body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407214528GWAS863504_Hbody mass index QTL GWAS863504 (human)2e-10osteoarthritis, hip, body mass indexbody mass index (BMI) (CMO:0000105)4102263082102263083Human
407376320GWAS1025296_Hbrain connectivity measurement QTL GWAS1025296 (human)8e-09brain connectivity measurement4102267552102267553Human
407397825GWAS1046801_Hhigh density lipoprotein cholesterol measurement QTL GWAS1046801 (human)3e-115high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407279055GWAS928031_Hhigh density lipoprotein cholesterol measurement QTL GWAS928031 (human)7e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407010760GWAS659736_Htotal cholesterol measurement QTL GWAS659736 (human)4e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)4102276925102276926Human
407264715GWAS913691_Hbody mass index QTL GWAS913691 (human)3e-21total cholesterol measurementblood total cholesterol level (CMO:0000051)4102267552102267553Human
407067598GWAS716574_Htotal cholesterol measurement QTL GWAS716574 (human)5e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)4102276925102276926Human
407067597GWAS716573_Htotal cholesterol measurement QTL GWAS716573 (human)8e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)4102276925102276926Human
407138250GWAS787226_Hosteoarthritis QTL GWAS787226 (human)9e-16osteoarthritis4102276925102276926Human
406942673GWAS591649_Hinsomnia measurement QTL GWAS591649 (human)3e-16insomnia measurement4102276925102276926Human
407354324GWAS1003300_Hapolipoprotein A 1 measurement QTL GWAS1003300 (human)7e-22coffee consumption measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)4102267552102267553Human
407300051GWAS949027_Hbody mass index QTL GWAS949027 (human)2e-28body mass indexbody mass index (BMI) (CMO:0000105)4102276925102276926Human
407350737GWAS999713_Hhigh density lipoprotein cholesterol measurement QTL GWAS999713 (human)5e-21high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407072724GWAS721700_Hhigh density lipoprotein cholesterol measurement QTL GWAS721700 (human)0.0000002high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407028702GWAS677678_Hamygdala volume QTL GWAS677678 (human)3e-09amygdala volumebrain weight to body weight ratio (CMO:0000139)4102314483102314484Human
407003618GWAS652594_HBMI-adjusted waist circumference QTL GWAS652594 (human)5e-20cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)4102267552102267553Human
407328229GWAS977205_Hbrain volume measurement QTL GWAS977205 (human)2e-36neuroimaging measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407081441GWAS730417_Hintelligence QTL GWAS730417 (human)2e-10intelligence4102307673102307674Human
407278053GWAS927029_Hred blood cell density measurement QTL GWAS927029 (human)1e-16schizophreniasystolic blood pressure (CMO:0000004)4102267552102267553Human
407244261GWAS893237_Hfree cholesterol in medium HDL measurement QTL GWAS893237 (human)3e-17blood lipid amount (VT:0003949)blood uric acid level (CMO:0000501)4102267552102267553Human
407368672GWAS1017648_Hserum gamma-glutamyl transferase measurement QTL GWAS1017648 (human)8e-14brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407328238GWAS977214_Hbrain volume measurement QTL GWAS977214 (human)3e-16cortical thicknessbrain morphological measurement (CMO:0000136)4102267552102267553Human
406887402GWAS536378_Hbody mass index QTL GWAS536378 (human)0.0000003body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407200751GWAS849727_Hhigh density lipoprotein cholesterol measurement QTL GWAS849727 (human)2e-19blood lipid amount (VT:0003949)red blood cell count (CMO:0000025)4102267552102267553Human
406980584GWAS629560_Hmultisite chronic pain QTL GWAS629560 (human)2e-13multisite chronic pain4102276925102276926Human
407147503GWAS796479_Htype 2 diabetes mellitus QTL GWAS796479 (human)3e-08osteoarthritis4102267552102267553Human
407328235GWAS977211_Hbrain volume measurement QTL GWAS977211 (human)1e-57brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407328234GWAS977210_Hbrain volume measurement QTL GWAS977210 (human)2e-53brain volume measurementbrain morphological measurement (CMO:0000136)4102267552102267553Human
407293417GWAS942393_Hhigh density lipoprotein cholesterol measurement QTL GWAS942393 (human)2e-50high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407325687GWAS974663_Hwhite matter integrity QTL GWAS974663 (human)7e-13neuroimaging measurement4102267552102267553Human
407268851GWAS917827_Hbody mass index QTL GWAS917827 (human)8e-39body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407314930GWAS963906_Hhigh density lipoprotein cholesterol measurement QTL GWAS963906 (human)5e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102311011102311012Human
407314929GWAS963905_Hhigh density lipoprotein cholesterol measurement QTL GWAS963905 (human)7e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102269072102269073Human
407342576GWAS991552_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS991552 (human)1e-08attention deficit hyperactivity disorder, autism spectrum disorder, intelligence4102307673102307674Human
407209983GWAS858959_Hobstructive sleep apnea QTL GWAS858959 (human)6e-13obstructive sleep apnea4102267552102267553Human
407003641GWAS652617_Hhematocrit QTL GWAS652617 (human)2e-31body mass index, osteoarthritisbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407009788GWAS658764_Hphysical activity measurement, body mass index QTL GWAS658764 (human)2e-09physical activity measurementbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407379447GWAS1028423_Hthalamus volume QTL GWAS1028423 (human)9e-13thalamus volumeboth kidneys wet weight to body weight ratio (CMO:0000340)4102267552102267553Human
407041410GWAS690386_Hbody mass index QTL GWAS690386 (human)0.0000007body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407261063GWAS910039_Hcortical thickness QTL GWAS910039 (human)3e-15cortical thickness4102276925102276926Human
407352708GWAS1001684_Hamygdala volume QTL GWAS1001684 (human)2e-20white matter microstructure measurementbrain weight to body weight ratio (CMO:0000139)4102267552102267553Human
407198086GWAS847062_Hcerebellar volume measurement QTL GWAS847062 (human)3e-22cerebellar volume measurement4102276925102276926Human
407419277GWAS1068253_Hdiastolic blood pressure QTL GWAS1068253 (human)3e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)4102263082102263083Human
407382912GWAS1031888_Hblood protein measurement QTL GWAS1031888 (human)1e-55blood protein measurementblood protein measurement (CMO:0000028)4102267552102267553Human
406936968GWAS585944_Hsmoking behavior, body mass index QTL GWAS585944 (human)4e-09cortical thicknessblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407078799GWAS727775_Hhigh density lipoprotein cholesterol measurement QTL GWAS727775 (human)4e-08attention deficit hyperactivity disorder, schizophreniablood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407009167GWAS658143_Hmean arterial pressure QTL GWAS658143 (human)1e-112-oxoarginine measurementmean arterial blood pressure (CMO:0000009)4102267552102267553Human
407097229GWAS746205_Hwaist-hip ratio QTL GWAS746205 (human)1e-20waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)4102267552102267553Human
407350664GWAS999640_Hcoffee consumption measurement, alcohol dependence measurement QTL GWAS999640 (human)3e-24coffee consumption measurement, alcohol dependence measurement4102267552102267553Human
407355287GWAS1004263_Hosteoarthritis, hip, body mass index QTL GWAS1004263 (human)2e-52osteoarthritis, hip, body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407196055GWAS845031_Hhemoglobin measurement QTL GWAS845031 (human)9e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)4102267552102267553Human
406900628GWAS549604_Hdiastolic blood pressure QTL GWAS549604 (human)4e-11phospholipid measurementmean arterial blood pressure (CMO:0000009)4102267552102267553Human
407388062GWAS1037038_Hneuroimaging measurement QTL GWAS1037038 (human)1e-77neuroimaging measurement4102267552102267553Human
407361424GWAS1010400_Hinsomnia QTL GWAS1010400 (human)4e-08insomnia4102277772102277773Human
406900632GWAS549608_Hdiastolic blood pressure QTL GWAS549608 (human)8e-11diastolic blood pressure, unipolar depressiondiastolic blood pressure (CMO:0000005)4102267552102267553Human
407419281GWAS1068257_Hdiastolic blood pressure QTL GWAS1068257 (human)5e-100diastolic blood pressurediastolic blood pressure (CMO:0000005)4102267552102267553Human
407352221GWAS1001197_Htriglyceride:HDL cholesterol ratio QTL GWAS1001197 (human)5e-32triglyceride:HDL cholesterol ratioblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407368604GWAS1017580_Hcognitive function measurement, self reported educational attainment QTL GWAS1017580 (human)6e-23cognitive function measurement, self reported educational attainment4102267552102267553Human
407115167GWAS764143_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS764143 (human)2e-33alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102276925102276926Human
407199128GWAS848104_Hprotein set measurement QTL GWAS848104 (human)4e-14cortical thicknesscalculated drink intake measurement (CMO:0002330)4102267552102267553Human
407355290GWAS1004266_Hbody mass index, osteoarthritis QTL GWAS1004266 (human)2e-51body mass index, osteoarthritisbody mass index (BMI) (CMO:0000105)4102267552102267553Human
406982559GWAS631535_Hsystolic blood pressure QTL GWAS631535 (human)1e-36body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407180698GWAS829674_Hinsomnia QTL GWAS829674 (human)7e-24insomnia4102267552102267553Human
407355288GWAS1004264_Hosteoarthritis, knee, body mass index QTL GWAS1004264 (human)2e-48osteoarthritis, knee, body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407098787GWAS747763_Herythrocyte count QTL GWAS747763 (human)6e-24lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407079335GWAS728311_Hbody height QTL GWAS728311 (human)1e-21body height (VT:0001253)diastolic blood pressure (CMO:0000005)4102267552102267553Human
407026603GWAS675579_Hamygdala volume QTL GWAS675579 (human)8e-16amygdala volumebrain weight to body weight ratio (CMO:0000139)4102276925102276926Human
407168429GWAS817405_Hbrain connectivity measurement QTL GWAS817405 (human)1e-19brain connectivity measurement4102276925102276926Human
407086505GWAS735481_Hprostate carcinoma QTL GWAS735481 (human)2e-08prostate carcinoma4102311011102311012Human
407393699GWAS1042675_Halcohol use disorder measurement QTL GWAS1042675 (human)8e-23alcohol use disorder measurement4102267552102267553Human
406892978GWAS541954_Hsystolic blood pressure QTL GWAS541954 (human)3e-09cortical thicknessblood high density lipoprotein cholesterol level (CMO:0000052)4102267552102267553Human
407037872GWAS686848_Hbody mass index QTL GWAS686848 (human)5e-12body mass indexbody mass index (BMI) (CMO:0000105)4102271086102271087Human
407391675GWAS1040651_Hbody mass index QTL GWAS1040651 (human)1e-28body mass indexbody mass index (BMI) (CMO:0000105)4102267552102267553Human
406971314GWAS620290_Hopioid use disorder QTL GWAS620290 (human)2e-12conditioned place preference behavior trait (VT:0010723)4102276925102276926Human
407048624GWAS697600_Hheart failure QTL GWAS697600 (human)2e-08heart failure4102291689102291690Human
407037873GWAS686849_Hbody mass index QTL GWAS686849 (human)5e-14body mass indexbody mass index (BMI) (CMO:0000105)4102312050102312051Human
406892980GWAS541956_Hsystolic blood pressure QTL GWAS541956 (human)1e-08cortical thicknessbody mass index (BMI) (CMO:0000105)4102267552102267553Human
407035830GWAS684806_Hdiastolic blood pressure QTL GWAS684806 (human)1e-13neuroimaging measurementdiastolic blood pressure (CMO:0000005)4102267552102267553Human
406999994GWAS648970_Hhematocrit QTL GWAS648970 (human)3e-38hematocrithematocrit (CMO:0000037)4102267552102267553Human
407354301GWAS1003277_Haspartate aminotransferase measurement QTL GWAS1003277 (human)3e-54aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)4102267552102267553Human
407354811GWAS1003787_Hbrain measurement QTL GWAS1003787 (human)4e-45brain measurementbrain measurement (CMO:0000911)4102267552102267553Human
407093182GWAS742158_HAbnormality of refraction QTL GWAS742158 (human)4e-17Abnormality of refraction4102267552102267553Human

Markers in Region
G34418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,234,040 - 103,234,210UniSTSGRCh37
Build 364103,453,063 - 103,453,233RGDNCBI36
Celera4100,532,528 - 100,532,698RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,971,400 - 98,971,570UniSTS
TNG Radiation Hybrid Map462988.0UniSTS
SHGC-50443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,910 - 103,183,014UniSTSGRCh37
Build 364103,401,933 - 103,402,037RGDNCBI36
Celera4100,481,389 - 100,481,493RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,261 - 98,920,365UniSTS
TNG Radiation Hybrid Map462976.0UniSTS
RH92985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,183,762 - 103,183,928UniSTSGRCh37
Build 364103,402,785 - 103,402,951RGDNCBI36
Celera4100,482,241 - 100,482,407RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,921,113 - 98,921,279UniSTS
GeneMap99-GB4 RH Map4489.89UniSTS
RH65581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,254,726 - 103,254,867UniSTSGRCh37
Build 364103,473,749 - 103,473,890RGDNCBI36
Celera4100,553,215 - 100,553,356RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,992,003 - 98,992,144UniSTS
GeneMap99-GB4 RH Map4494.25UniSTS
NCBI RH Map41163.1UniSTS
PMC321570P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,183,687 - 103,184,000UniSTSGRCh37
Build 364103,402,710 - 103,403,023RGDNCBI36
Celera4100,482,166 - 100,482,479RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,921,038 - 98,921,351UniSTS
SHGC-36631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,833 - 103,182,958UniSTSGRCh37
Build 364103,401,856 - 103,401,981RGDNCBI36
Celera4100,481,312 - 100,481,437RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,184 - 98,920,309UniSTS
Stanford-G3 RH Map45740.0UniSTS
GeneMap99-G3 RH Map45668.0UniSTS
G20730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,871 - 103,183,098UniSTSGRCh37
Build 364103,401,894 - 103,402,121RGDNCBI36
Celera4100,481,350 - 100,481,577RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,222 - 98,920,449UniSTS
A006D35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,182,871 - 103,183,098UniSTSGRCh37
Build 364103,401,894 - 103,402,121RGDNCBI36
Celera4100,481,350 - 100,481,577RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,920,222 - 98,920,449UniSTS
GeneMap99-GB4 RH Map4489.89UniSTS
NCBI RH Map41161.8UniSTS
D4S2644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374103,234,080 - 103,234,210UniSTSGRCh37
Build 364103,453,103 - 103,453,233RGDNCBI36
Celera4100,532,568 - 100,532,698RGD
Cytogenetic Map4q22-q24UniSTS
HuRef498,971,440 - 98,971,570UniSTS
Stanford-G3 RH Map45775.0UniSTS
Whitehead-RH Map4533.9UniSTS
Whitehead-YAC Contig Map4 UniSTS
RH78848  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q22-q24UniSTS
GeneMap99-GB4 RH Map1596.32UniSTS


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 2436 2788 2248 4956 1724 2349 5 624 1951 464 2269 7293 6461 53 3720 1 850 1738 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF000600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI823248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA438467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356736   ⟹   ENSP00000349174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,666 - 102,345,482 (-)Ensembl
Ensembl Acc Id: ENST00000394833   ⟹   ENSP00000378310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,666 - 102,345,139 (-)Ensembl
Ensembl Acc Id: ENST00000424970   ⟹   ENSP00000394548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,251,080 - 102,345,501 (-)Ensembl
Ensembl Acc Id: ENST00000502903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,307,557 - 102,431,258 (-)Ensembl
Ensembl Acc Id: ENST00000510255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,304,407 - 102,353,000 (-)Ensembl
Ensembl Acc Id: ENST00000512337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,269,716 - 102,304,488 (-)Ensembl
Ensembl Acc Id: ENST00000512657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,305,025 - 102,345,482 (-)Ensembl
Ensembl Acc Id: ENST00000514000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,304,448 - 102,345,437 (-)Ensembl
Ensembl Acc Id: ENST00000682227   ⟹   ENSP00000508363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,207 (-)Ensembl
Ensembl Acc Id: ENST00000682243   ⟹   ENSP00000507952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,681 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000682549   ⟹   ENSP00000507483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,257,209 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000682932   ⟹   ENSP00000507414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,531 (-)Ensembl
Ensembl Acc Id: ENST00000683173   ⟹   ENSP00000508032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000683221   ⟹   ENSP00000508093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,266,682 - 102,345,801 (-)Ensembl
Ensembl Acc Id: ENST00000683401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,837 (-)Ensembl
Ensembl Acc Id: ENST00000683412   ⟹   ENSP00000507538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,677 - 102,345,205 (-)Ensembl
Ensembl Acc Id: ENST00000683462   ⟹   ENSP00000507170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,681 - 102,345,492 (-)Ensembl
Ensembl Acc Id: ENST00000683634   ⟹   ENSP00000507087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,266,677 - 102,345,461 (-)Ensembl
Ensembl Acc Id: ENST00000683706   ⟹   ENSP00000506745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,687 - 102,345,495 (-)Ensembl
Ensembl Acc Id: ENST00000683916   ⟹   ENSP00000508106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,681 - 102,345,440 (-)Ensembl
Ensembl Acc Id: ENST00000684289   ⟹   ENSP00000506748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,679 - 102,345,482 (-)Ensembl
Ensembl Acc Id: ENST00000684386   ⟹   ENSP00000507611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4102,261,687 - 102,345,461 (-)Ensembl
RefSeq Acc Id: NM_001135146   ⟹   NP_001128618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,666 - 102,345,482 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,159,336 - 103,243,025 (-)NCBI
T2T-CHM13v2.04105,575,877 - 105,659,701 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135147   ⟹   NP_001128619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,251,041 - 102,345,253 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,148,714 - 103,242,780 (-)NCBI
T2T-CHM13v2.04105,565,252 - 105,659,472 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135148   ⟹   NP_001128620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,666 - 102,324,312 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,159,336 - 103,221,839 (-)NCBI
T2T-CHM13v2.04105,575,877 - 105,638,528 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022154   ⟹   NP_071437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,345,191 (-)NCBI
GRCh374103,172,198 - 103,266,655 (-)RGD
Build 364103,401,844 - 103,485,371 (-)NCBI Archive
Celera4100,470,678 - 100,565,146 (-)RGD
HuRef498,909,550 - 99,003,934 (-)RGD
CHM1_14103,159,336 - 103,242,718 (-)NCBI
T2T-CHM13v2.04105,575,875 - 105,659,410 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008541   ⟹   XP_016864030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,344,915 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454183   ⟹   XP_024309951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,300,950 - 102,345,482 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454184   ⟹   XP_024309952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,257,358 - 102,345,482 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416070   ⟹   XP_047272026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,345,482 (-)NCBI
RefSeq Acc Id: XM_047416071   ⟹   XP_047272027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,261,664 - 102,307,523 (-)NCBI
RefSeq Acc Id: XM_054350705   ⟹   XP_054206680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,575,875 - 105,659,701 (-)NCBI
RefSeq Acc Id: XM_054350706   ⟹   XP_054206681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,575,875 - 105,659,134 (-)NCBI
RefSeq Acc Id: XM_054350707   ⟹   XP_054206682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,615,167 - 105,659,701 (-)NCBI
RefSeq Acc Id: XM_054350708   ⟹   XP_054206683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,575,875 - 105,621,740 (-)NCBI
RefSeq Acc Id: XM_054350709   ⟹   XP_054206684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04105,571,569 - 105,659,701 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001128618 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128620 (Get FASTA)   NCBI Sequence Viewer  
  NP_071437 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864030 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309951 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309952 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272026 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206684 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG22480 (Get FASTA)   NCBI Sequence Viewer  
  AAH01320 (Get FASTA)   NCBI Sequence Viewer  
  AAH12125 (Get FASTA)   NCBI Sequence Viewer  
  BAA96442 (Get FASTA)   NCBI Sequence Viewer  
  BAB21559 (Get FASTA)   NCBI Sequence Viewer  
  BAB55268 (Get FASTA)   NCBI Sequence Viewer  
  BAG65135 (Get FASTA)   NCBI Sequence Viewer  
  EAX06129 (Get FASTA)   NCBI Sequence Viewer  
  EAX06130 (Get FASTA)   NCBI Sequence Viewer  
  EAX06131 (Get FASTA)   NCBI Sequence Viewer  
  EAX06132 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000349174
  ENSP00000349174.4
  ENSP00000378310
  ENSP00000378310.2
  ENSP00000394548.3
  ENSP00000506745.1
  ENSP00000506748.1
  ENSP00000507087.1
  ENSP00000507170.1
  ENSP00000507414.1
  ENSP00000507483.1
  ENSP00000507538.1
  ENSP00000507611
  ENSP00000507611.1
  ENSP00000507952.1
  ENSP00000508032.1
  ENSP00000508093.1
  ENSP00000508106.1
  ENSP00000508363.1
GenBank Protein Q9C0K1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001128619   ⟸   NM_001135147
- Peptide Label: isoform b precursor
- UniProtKB: A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128618   ⟸   NM_001135146
- Peptide Label: isoform a precursor
- UniProtKB: Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot),   Q9C0K1 (UniProtKB/Swiss-Prot),   A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071437   ⟸   NM_022154
- Peptide Label: isoform a precursor
- UniProtKB: Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot),   Q9C0K1 (UniProtKB/Swiss-Prot),   A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128620   ⟸   NM_001135148
- Peptide Label: isoform c
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864030   ⟸   XM_017008541
- Peptide Label: isoform X2
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309952   ⟸   XM_024454184
- Peptide Label: isoform X5
- UniProtKB: A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309951   ⟸   XM_024454183
- Peptide Label: isoform X3
- UniProtKB: A0A804HJR0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000394548   ⟸   ENST00000424970
Ensembl Acc Id: ENSP00000378310   ⟸   ENST00000394833
Ensembl Acc Id: ENSP00000349174   ⟸   ENST00000356736
Ensembl Acc Id: ENSP00000507611   ⟸   ENST00000684386
Ensembl Acc Id: ENSP00000508032   ⟸   ENST00000683173
Ensembl Acc Id: ENSP00000508093   ⟸   ENST00000683221
Ensembl Acc Id: ENSP00000506748   ⟸   ENST00000684289
Ensembl Acc Id: ENSP00000507538   ⟸   ENST00000683412
Ensembl Acc Id: ENSP00000507414   ⟸   ENST00000682932
Ensembl Acc Id: ENSP00000507952   ⟸   ENST00000682243
Ensembl Acc Id: ENSP00000507170   ⟸   ENST00000683462
Ensembl Acc Id: ENSP00000508363   ⟸   ENST00000682227
Ensembl Acc Id: ENSP00000507087   ⟸   ENST00000683634
Ensembl Acc Id: ENSP00000507483   ⟸   ENST00000682549
Ensembl Acc Id: ENSP00000508106   ⟸   ENST00000683916
Ensembl Acc Id: ENSP00000506745   ⟸   ENST00000683706
RefSeq Acc Id: XP_047272026   ⟸   XM_047416070
- Peptide Label: isoform X1
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot),   Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272027   ⟸   XM_047416071
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206684   ⟸   XM_054350709
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054206680   ⟸   XM_054350705
- Peptide Label: isoform X1
- UniProtKB: Q9C0K1 (UniProtKB/Swiss-Prot),   Q9BVC0 (UniProtKB/Swiss-Prot),   Q96SM9 (UniProtKB/Swiss-Prot),   B4E2H3 (UniProtKB/Swiss-Prot),   Q9NSA4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206681   ⟸   XM_054350706
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206683   ⟸   XM_054350708
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206682   ⟸   XM_054350707
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0K1-F1-model_v2 AlphaFold Q9C0K1 1-460 view protein structure

Promoters
RGD ID:6868142
Promoter ID:EPDNEW_H7236
Type:initiation region
Name:SLC39A8_2
Description:solute carrier family 39 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7237  EPDNEW_H7238  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,345,023 - 102,345,083EPDNEW
RGD ID:6868144
Promoter ID:EPDNEW_H7237
Type:initiation region
Name:SLC39A8_3
Description:solute carrier family 39 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7236  EPDNEW_H7238  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,345,205 - 102,345,265EPDNEW
RGD ID:6868146
Promoter ID:EPDNEW_H7238
Type:initiation region
Name:SLC39A8_1
Description:solute carrier family 39 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7236  EPDNEW_H7237  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384102,345,482 - 102,345,542EPDNEW
RGD ID:6802611
Promoter ID:HG_KWN:48819
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001135146,   NM_001135147,   NM_022154
Position:
Human AssemblyChrPosition (strand)Source
Build 364103,484,746 - 103,485,797 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20862 AgrOrtholog
COSMIC SLC39A8 COSMIC
Ensembl Genes ENSG00000138821 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356736 ENTREZGENE
  ENST00000356736.5 UniProtKB/Swiss-Prot
  ENST00000394833 ENTREZGENE
  ENST00000394833.6 UniProtKB/Swiss-Prot
  ENST00000424970.7 UniProtKB/TrEMBL
  ENST00000682227.1 UniProtKB/Swiss-Prot
  ENST00000682243.1 UniProtKB/TrEMBL
  ENST00000682549.1 UniProtKB/TrEMBL
  ENST00000682932.1 UniProtKB/Swiss-Prot
  ENST00000683173.1 UniProtKB/TrEMBL
  ENST00000683221.1 UniProtKB/TrEMBL
  ENST00000683401 ENTREZGENE
  ENST00000683412.1 UniProtKB/Swiss-Prot
  ENST00000683462.1 UniProtKB/TrEMBL
  ENST00000683634.1 UniProtKB/TrEMBL
  ENST00000683706.1 UniProtKB/TrEMBL
  ENST00000683916.1 UniProtKB/TrEMBL
  ENST00000684289.1 UniProtKB/TrEMBL
  ENST00000684386 ENTREZGENE
  ENST00000684386.1 UniProtKB/TrEMBL
GTEx ENSG00000138821 GTEx
HGNC ID HGNC:20862 ENTREZGENE
Human Proteome Map SLC39A8 Human Proteome Map
InterPro ZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZIP_Transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64116 UniProtKB/Swiss-Prot
NCBI Gene 64116 ENTREZGENE
OMIM 608732 OMIM
PANTHER METAL CATION SYMPORTER ZIP8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Zip UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931507 PharmGKB
UniProt A0A804HHS9_HUMAN UniProtKB/TrEMBL
  A0A804HHT0_HUMAN UniProtKB/TrEMBL
  A0A804HJR0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKQ9_HUMAN UniProtKB/TrEMBL
  A0A804HKW0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKX2_HUMAN UniProtKB/TrEMBL
  B4E2H3 ENTREZGENE
  Q96SM9 ENTREZGENE
  Q9BVC0 ENTREZGENE
  Q9C0K1 ENTREZGENE
  Q9NSA4 ENTREZGENE
  S39A8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E2H3 UniProtKB/Swiss-Prot
  Q96SM9 UniProtKB/Swiss-Prot
  Q9BVC0 UniProtKB/Swiss-Prot
  Q9NSA4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC39A8  solute carrier family 39 member 8  SLC39A8  solute carrier family 39 (zinc transporter), member 8  Symbol and/or name change 5135510 APPROVED