rs7694364

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0412 (12266/29766,GnomAD)
C=0417 (12166/29118,TOPMED)
C=0386 (1934/5008,1000G)
C=0419 (1616/3854,ALSPAC)
C=0405 (1502/3708,TWINSUK)
chr4:107163457 (GRCh38.p7) (4q25)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.107163457T>C
GRCh37.p13 chr 4NC_000004.11:g.108084614T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.586C=0.414
1000GenomesAmericanSub694T=0.570C=0.430
1000GenomesEast AsianSub1008T=0.654C=0.346
1000GenomesEuropeSub1006T=0.588C=0.412
1000GenomesGlobalStudy-wide5008T=0.614C=0.386
1000GenomesSouth AsianSub978T=0.660C=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.581C=0.419
The Genome Aggregation DatabaseAfricanSub8700T=0.592C=0.408
The Genome Aggregation DatabaseAmericanSub836T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1574T=0.625C=0.375
The Genome Aggregation DatabaseEuropeSub18354T=0.582C=0.417
The Genome Aggregation DatabaseGlobalStudy-wide29766T=0.587C=0.412
The Genome Aggregation DatabaseOtherSub302T=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.582C=0.417
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.595C=0.405
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
rs76943640.000669alcohol consumption (maxi-drinks)24277619

eQTL of rs7694364 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 rs7694364 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4108131744108132529E06947130
chr4108131744108132529E07147130