rs9972517

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0323 (9688/29908,GnomAD)
C==0273 (7969/29118,TOPMED)
C==0206 (1034/5008,1000G)
C==0418 (1611/3854,ALSPAC)
C==0413 (1532/3708,TWINSUK)
chr15:81826810 (GRCh38.p7) (15q25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.81826810C>T
GRCh37.p13 chr 15NC_000015.9:g.82119151C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.079T=0.921
1000GenomesAmericanSub694C=0.260T=0.740
1000GenomesEast AsianSub1008C=0.081T=0.919
1000GenomesEuropeSub1006C=0.428T=0.572
1000GenomesGlobalStudy-wide5008C=0.206T=0.794
1000GenomesSouth AsianSub978C=0.240T=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.418T=0.582
The Genome Aggregation DatabaseAfricanSub8712C=0.131T=0.869
The Genome Aggregation DatabaseAmericanSub836C=0.200T=0.800
The Genome Aggregation DatabaseEast AsianSub1614C=0.072T=0.928
The Genome Aggregation DatabaseEuropeSub18444C=0.441T=0.558
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.323T=0.676
The Genome Aggregation DatabaseOtherSub302C=0.420T=0.580
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.273T=0.726
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.413T=0.587
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
rs99725170.000594alcohol consumption (maxi-drinks)24277619

eQTL of rs9972517 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 rs9972517 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 )
chr158210560582106233E081-12918