rs6134980

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0348 (10419/29912,GnomAD)
C==0328 (9561/29118,TOPMED)
C==0253 (1266/5008,1000G)
C==0358 (1378/3854,ALSPAC)
C==0355 (1315/3708,TWINSUK)
chr20:13833963 (GRCh38.p7) (20p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
147 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.13833963C>T
GRCh37.p13 chr 20NC_000020.10:g.13814609C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.335T=0.665
1000GenomesAmericanSub694C=0.290T=0.710
1000GenomesEast AsianSub1008C=0.091T=0.909
1000GenomesEuropeSub1006C=0.339T=0.661
1000GenomesGlobalStudy-wide5008C=0.253T=0.747
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.358T=0.642
The Genome Aggregation DatabaseAfricanSub8704C=0.341T=0.659
The Genome Aggregation DatabaseAmericanSub836C=0.260T=0.740
The Genome Aggregation DatabaseEast AsianSub1614C=0.082T=0.918
The Genome Aggregation DatabaseEuropeSub18456C=0.379T=0.620
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.348T=0.651
The Genome Aggregation DatabaseOtherSub302C=0.290T=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.328T=0.671
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.355T=0.645
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs61349800.000481alcohol consumption (maxi-drinks)24277619

eQTL of rs6134980 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs6134980 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr201376776113767811E067-46798
chr201377139913771459E067-43150
chr201377161713771667E067-42942
chr201377188213771922E067-42687
chr201377218713773152E067-41457
chr201378107213781282E067-33327
chr201378131813781799E067-32810
chr201383652013836585E06721911
chr201383709313837253E06722484
chr201383758113837631E06722972
chr201383805613838216E06723447
chr201384642113846991E06731812
chr201384701413847124E06732405
chr201384715213847209E06732543
chr201385882013858931E06744211
chr201377161713771667E068-42942
chr201377188213771922E068-42687
chr201377218713773152E068-41457
chr201377318313773233E068-41376
chr201378131813781799E068-32810
chr201378223513782341E068-32268
chr201383652013836585E06821911
chr201383709313837253E06822484
chr201383758113837631E06822972
chr201383805613838216E06823447
chr201383851513838585E06823906
chr201383872213838849E06824113
chr201384582713846335E06831218
chr201384642113846991E06831812
chr201384701413847124E06832405
chr201384715213847209E06832543
chr201384738813847438E06832779
chr201384983613849945E06835227
chr201385504513855721E06840436
chr201385579913855881E06841190
chr201385830813858779E06843699
chr201377074313770817E069-43792
chr201377139913771459E069-43150
chr201377161713771667E069-42942
chr201377188213771922E069-42687
chr201377218713773152E069-41457
chr201377318313773233E069-41376
chr201378131813781799E069-32810
chr201383652013836585E06921911
chr201383709313837253E06922484
chr201383758113837631E06922972
chr201383805613838216E06923447
chr201384582713846335E06931218
chr201384642113846991E06931812
chr201384701413847124E06932405
chr201384715213847209E06932543
chr201385825313858303E06943644
chr201385830813858779E06943699
chr201378076813780957E070-33652
chr201378131813781799E070-32810
chr201384701413847124E07032405
chr201384715213847209E07032543
chr201384738813847438E07032779
chr201385504513855721E07040436
chr201377074313770817E071-43792
chr201377139913771459E071-43150
chr201377161713771667E071-42942
chr201377188213771922E071-42687
chr201377218713773152E071-41457
chr201377318313773233E071-41376
chr201377347813773595E071-41014
chr201378131813781799E071-32810
chr201383652013836585E07121911
chr201383709313837253E07122484
chr201383758113837631E07122972
chr201383805613838216E07123447
chr201384582713846335E07131218
chr201384642113846991E07131812
chr201384701413847124E07132405
chr201384715213847209E07132543
chr201376866313768755E072-45854
chr201376880213769345E072-45264
chr201377161713771667E072-42942
chr201377188213771922E072-42687
chr201377218713773152E072-41457
chr201378107213781282E072-33327
chr201378131813781799E072-32810
chr201378874613788800E072-25809
chr201383652013836585E07221911
chr201383709313837253E07222484
chr201383758113837631E07222972
chr201383805613838216E07223447
chr201383851513838585E07223906
chr201383872213838849E07224113
chr201384701413847124E07232405
chr201385882013858931E07244211
chr201376776113767811E073-46798
chr201377161713771667E073-42942
chr201377188213771922E073-42687
chr201377218713773152E073-41457
chr201377318313773233E073-41376
chr201377925313779303E073-35306
chr201377964913779724E073-34885
chr201377977413779824E073-34785
chr201377991213779999E073-34610
chr201378107213781282E073-33327
chr201378131813781799E073-32810
chr201378223513782341E073-32268
chr201380321713803401E073-11208
chr201383805613838216E07323447
chr201383851513838585E07323906
chr201383872213838849E07324113
chr201376776113767811E074-46798
chr201377139913771459E074-43150
chr201377161713771667E074-42942
chr201377188213771922E074-42687
chr201377218713773152E074-41457
chr201377318313773233E074-41376
chr201378131813781799E074-32810
chr201383652013836585E07421911
chr201383709313837253E07422484
chr201383758113837631E07422972
chr201383805613838216E07423447
chr201383851513838585E07423906
chr201383872213838849E07424113
chr201383885813838911E07424249
chr201383896013839042E07424351
chr201384582713846335E07431218
chr201384642113846991E07431812
chr201384701413847124E07432405
chr201384715213847209E07432543
chr201376776113767811E081-46798
chr201378107213781282E081-33327
chr201378131813781799E081-32810
chr201378223513782341E081-32268
chr201378340513783466E081-31143
chr201378357013783624E081-30985
chr201378367213783930E081-30679
chr201378395313784026E081-30583
chr201384582713846335E08131218
chr201384642113846991E08131812
chr201384701413847124E08132405
chr201384715213847209E08132543
chr201378097513781037E082-33572
chr201378107213781282E082-33327
chr201378131813781799E082-32810
chr201378340513783466E082-31143
chr201378357013783624E082-30985
chr201378367213783930E082-30679
chr201384642113846991E08231812
chr201384701413847124E08232405
chr201384715213847209E08232543










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr201376470213764828E067-49781
chr201376485313764919E067-49690
chr201376501213766398E067-48211
chr201376470213764828E068-49781
chr201376485313764919E068-49690
chr201376501213766398E068-48211
chr201382187713821927E0687268
chr201382204213822115E0687433
chr201376470213764828E069-49781
chr201376485313764919E069-49690
chr201376501213766398E069-48211
chr201376470213764828E070-49781
chr201376485313764919E070-49690
chr201376501213766398E070-48211
chr201376470213764828E071-49781
chr201376485313764919E071-49690
chr201376501213766398E071-48211
chr201376485313764919E072-49690
chr201376501213766398E072-48211
chr201376470213764828E073-49781
chr201376485313764919E073-49690
chr201376501213766398E073-48211
chr201376485313764919E074-49690
chr201376501213766398E074-48211
chr201376470213764828E081-49781
chr201376485313764919E081-49690
chr201376501213766398E081-48211
chr201376470213764828E082-49781
chr201376485313764919E082-49690
chr201376501213766398E082-48211