rs1920597

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0460 (13774/29892,GnomAD)
G==0455 (13251/29118,TOPMED)
G==0352 (1761/5008,1000G)
A=0432 (1664/3854,ALSPAC)
A=0424 (1574/3708,TWINSUK)
chr12:114266287 (GRCh38.p7) (12q24.21)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.114266287G>A
GRCh37.p13 chr 12NC_000012.11:g.114704092G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.349A=0.651
1000GenomesAmericanSub694G=0.370A=0.630
1000GenomesEast AsianSub1008G=0.064A=0.936
1000GenomesEuropeSub1006G=0.590A=0.410
1000GenomesGlobalStudy-wide5008G=0.352A=0.648
1000GenomesSouth AsianSub978G=0.390A=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.568A=0.432
The Genome Aggregation DatabaseAfricanSub8710G=0.365A=0.635
The Genome Aggregation DatabaseAmericanSub836G=0.380A=0.620
The Genome Aggregation DatabaseEast AsianSub1614G=0.073A=0.927
The Genome Aggregation DatabaseEuropeSub18432G=0.541A=0.459
The Genome Aggregation DatabaseGlobalStudy-wide29892G=0.460A=0.539
The Genome Aggregation DatabaseOtherSub300G=0.620A=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.455A=0.544
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.576A=0.424
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
rs19205970.000102alcohol consumption (maxi-drinks)24277619

eQTL of rs1920597 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 rs1920597 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 )
chr12114676570114677493E068-26599
chr12114676570114677493E071-26599
chr12114686855114686905E071-17187
chr12114687379114687429E071-16663
chr12114676570114677493E072-26599
chr12114710854114710965E0816762
chr12114665931114665981E082-38111