rs9307239

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0458 (13694/29864,GnomAD)
T=0480 (13987/29118,TOPMED)
C==0419 (2096/5008,1000G)
T=0403 (1555/3854,ALSPAC)
T=0379 (1406/3708,TWINSUK)
chr4:99325780 (GRCh38.p7) (4q23)
AD
GWASCatalog
3   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99325780C>T
GRCh37.p13 chr 4NC_000004.11:g.100246937C>T
ADH1B RefSeqGeneNG_011435.1:g.636G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.425T=0.575
1000GenomesAmericanSub694C=0.670T=0.330
1000GenomesEast AsianSub1008C=0.186T=0.814
1000GenomesEuropeSub1006C=0.599T=0.401
1000GenomesGlobalStudy-wide5008C=0.419T=0.581
1000GenomesSouth AsianSub978C=0.290T=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.597T=0.403
The Genome Aggregation DatabaseAfricanSub8688C=0.458T=0.542
The Genome Aggregation DatabaseAmericanSub832C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1604C=0.211T=0.789
The Genome Aggregation DatabaseEuropeSub18438C=0.602T=0.398
The Genome Aggregation DatabaseGlobalStudy-wide29864C=0.541T=0.458
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.519T=0.480
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.621T=0.379
PMID Title Author Journal
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry
20089146The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.Peng YBMC Evol Biol
21592108Diversification of the ADH1B gene during expansion of modern humans.Li HAnn Hum Genet

P-Value

SNP ID p-value Traits Study
rs93072391E-07alcohol dependence24166409

eQTL of rs9307239 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 rs9307239 in Fetal Brain

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr4100245602100245886E068-1051
chr4100221669100221897E070-25040
chr4100244954100245162E073-1775
chr4100245344100245493E073-1444
chr4100221669100221897E082-25040
chr4100222048100222444E082-24493