rs9502630

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0433 (12964/29888,GnomAD)
A=0460 (13394/29118,TOPMED)
A=0326 (1635/5008,1000G)
A=0489 (1883/3854,ALSPAC)
A=0473 (1753/3708,TWINSUK)
chr6:7633425 (GRCh38.p7) (6p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.7633425G>A
GRCh37.p13 chr 6NC_000006.11:g.7633658G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.546A=0.454
1000GenomesAmericanSub694G=0.670A=0.330
1000GenomesEast AsianSub1008G=0.959A=0.041
1000GenomesEuropeSub1006G=0.523A=0.477
1000GenomesGlobalStudy-wide5008G=0.674A=0.326
1000GenomesSouth AsianSub978G=0.710A=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.511A=0.489
The Genome Aggregation DatabaseAfricanSub8692G=0.551A=0.449
The Genome Aggregation DatabaseAmericanSub828G=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1620G=0.971A=0.029
The Genome Aggregation DatabaseEuropeSub18446G=0.534A=0.465
The Genome Aggregation DatabaseGlobalStudy-wide29888G=0.566A=0.433
The Genome Aggregation DatabaseOtherSub302G=0.420A=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.540A=0.460
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.527A=0.473
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
rs95026300.000499alcohol consumption (maxi-drinks)24277619

eQTL of rs9502630 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 rs9502630 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 )
chr675921667592285E067-41373
chr676744217674471E06740763
chr675921667592285E068-41373
chr676744217674471E06840763
chr675894017589855E069-43803
chr675921667592285E069-41373
chr676157267616508E069-17150
chr675921667592285E070-41373
chr675928717593143E070-40515
chr676812667681334E07047608
chr676819947682085E07048336
chr676821437682228E07048485
chr675921667592285E071-41373
chr676737867673939E07140128
chr675921667592285E072-41373
chr675894017589855E073-43803
chr675921667592285E073-41373
chr675928717593143E073-40515
chr675934867593566E073-40092
chr676157267616508E073-17150
chr675921667592285E074-41373
chr676157267616508E074-17150
chr675921667592285E081-41373
chr676819947682085E08248336
chr676821437682228E08248485










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr675899667590046E067-43612
chr675900767591107E067-42551
chr675912717591427E067-42231
chr675899667590046E068-43612
chr675900767591107E068-42551
chr675912717591427E068-42231
chr675899667590046E069-43612
chr675900767591107E069-42551
chr675912717591427E069-42231
chr675899667590046E070-43612
chr675900767591107E070-42551
chr675912717591427E070-42231
chr675899667590046E071-43612
chr675900767591107E071-42551
chr675912717591427E071-42231
chr675899667590046E072-43612
chr675900767591107E072-42551
chr675912717591427E072-42231
chr675899667590046E073-43612
chr675900767591107E073-42551
chr675912717591427E073-42231
chr675899667590046E074-43612
chr675900767591107E074-42551
chr675912717591427E074-42231
chr675899667590046E081-43612
chr675900767591107E081-42551
chr675899667590046E082-43612
chr675900767591107E082-42551
chr675912717591427E082-42231