rs1207688

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0422 (12404/29376,GnomAD)
C==0393 (11453/29118,TOPMED)
C==0397 (1990/5008,1000G)
C==0439 (1693/3854,ALSPAC)
C==0425 (1577/3708,TWINSUK)
chr7:96932719 (GRCh38.p7) (7q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.96932719C>T
GRCh37.p13 chr 7NC_000007.13:g.96562031C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.337T=0.663
1000GenomesAmericanSub694C=0.410T=0.590
1000GenomesEast AsianSub1008C=0.474T=0.526
1000GenomesEuropeSub1006C=0.434T=0.566
1000GenomesGlobalStudy-wide5008C=0.397T=0.603
1000GenomesSouth AsianSub978C=0.350T=0.650
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.439T=0.561
The Genome Aggregation DatabaseAfricanSub8634C=0.351T=0.649
The Genome Aggregation DatabaseAmericanSub794C=0.380T=0.620
The Genome Aggregation DatabaseEast AsianSub1602C=0.486T=0.514
The Genome Aggregation DatabaseEuropeSub18044C=0.452T=0.547
The Genome Aggregation DatabaseGlobalStudy-wide29376C=0.422T=0.577
The Genome Aggregation DatabaseOtherSub302C=0.420T=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.393T=0.606
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.425T=0.575
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
rs12076883.1E-05alcohol dependence24277619

eQTL of rs1207688 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 rs1207688 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 )
chr79655061096550828E070-11203
chr79655087296551049E070-10982
chr79659879596598873E07036764
chr79659977896599893E07037747
chr79660014296600352E07038111
chr79660041796600467E07038386
chr79660050496600703E07038473
chr79660137396601423E07039342
chr79660196096602048E07039929
chr79660439296604526E07042361
chr79660529796605426E07043266
chr79660557796605627E07043546
chr79660572096605838E07043689
chr79660791796607982E07045886
chr79660811596608207E07046084
chr79660886896609714E07046837
chr79661092596611097E07048894