rs6969314

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0408 (12181/29820,GnomAD)
A=0417 (12142/29118,TOPMED)
A=0365 (1830/5008,1000G)
A=0399 (1538/3854,ALSPAC)
A=0387 (1435/3708,TWINSUK)
chr7:38136771 (GRCh38.p7) (7p14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.38136771G>A
GRCh37.p13 chr 7NC_000007.13:g.38176373G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.488A=0.512
1000GenomesAmericanSub694G=0.700A=0.300
1000GenomesEast AsianSub1008G=0.773A=0.227
1000GenomesEuropeSub1006G=0.592A=0.408
1000GenomesGlobalStudy-wide5008G=0.635A=0.365
1000GenomesSouth AsianSub978G=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.601A=0.399
The Genome Aggregation DatabaseAfricanSub8704G=0.504A=0.496
The Genome Aggregation DatabaseAmericanSub836G=0.710A=0.290
The Genome Aggregation DatabaseEast AsianSub1614G=0.769A=0.231
The Genome Aggregation DatabaseEuropeSub18364G=0.611A=0.388
The Genome Aggregation DatabaseGlobalStudy-wide29820G=0.591A=0.408
The Genome Aggregation DatabaseOtherSub302G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.583A=0.417
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.613A=0.387
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
rs69693140.000953alcohol consumption (maxi-drinks)24277619

eQTL of rs6969314 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 rs6969314 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 )
chr73822035038220405E06743977
chr73822035038220405E06943977
chr73822035038220405E07043977
chr73821695138217017E07340578
chr73822035038220405E08143977
chr73822035038220405E08243977






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr73821706338217220E06740690
chr73821727038219260E06740897
chr73821706338217220E06840690
chr73821727038219260E06840897
chr73821706338217220E06940690
chr73821727038219260E06940897
chr73821706338217220E07040690
chr73821727038219260E07040897
chr73821706338217220E07140690
chr73821727038219260E07140897
chr73821706338217220E07240690
chr73821727038219260E07240897
chr73821706338217220E07340690
chr73821727038219260E07340897
chr73821706338217220E07440690
chr73821727038219260E07440897
chr73821706338217220E08140690
chr73821727038219260E08140897
chr73821706338217220E08240690
chr73821727038219260E08240897