rs12506794

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0019 (577/29932,GnomAD)
T=0012 (350/29118,TOPMED)
T=0066 (332/5008,1000G)
T=0001 (4/3854,ALSPAC)
T=0000 (0/3708,TWINSUK)
chr4:166533135 (GRCh38.p7) (4q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.166533135C>T
GRCh37.p13 chr 4NC_000004.11:g.167454287C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=1.000T=0.000
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.737T=0.263
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.934T=0.066
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.999T=0.001
The Genome Aggregation DatabaseAfricanSub8722C=0.999T=0.001
The Genome Aggregation DatabaseAmericanSub836C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1614C=0.705T=0.295
The Genome Aggregation DatabaseEuropeSub18458C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.980T=0.019
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.988T=0.012
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000T=0.000
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
rs125067940.000764alcohol dependence24277619

eQTL of rs12506794 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 rs12506794 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 )
chr4167440180167440247E070-14040
chr4167419615167420081E071-34206
chr4167419300167419409E081-34878