rs2253162

Homo sapiens
A>G / A>T
None
Check p-value
SNV (Single Nucleotide Variation)
G=0381 (11412/29946,GnomAD)
G=0355 (10351/29118,TOPMED)
G=0403 (2020/5008,1000G)
G=0414 (1594/3854,ALSPAC)
G=0420 (1557/3708,TWINSUK)
chr8:126322765 (GRCh38.p7) (8q24.21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.126322765A>G
GRCh38.p7 chr 8NC_000008.11:g.126322765A>T
GRCh37.p13 chr 8NC_000008.10:g.127335010A>G
GRCh37.p13 chr 8NC_000008.10:g.127335010A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.783G=0.217
1000GenomesAmericanSub694A=0.570G=0.430
1000GenomesEast AsianSub1008A=0.379G=0.621
1000GenomesEuropeSub1006A=0.585G=0.415
1000GenomesGlobalStudy-wide5008A=0.597G=0.403
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.586G=0.414
The Genome Aggregation DatabaseAfricanSub8720A=0.743G=0.257
The Genome Aggregation DatabaseAmericanSub836A=0.550G=0.450
The Genome Aggregation DatabaseEast AsianSub1618A=0.389G=0.611
The Genome Aggregation DatabaseEuropeSub18472A=0.584G=0.416
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.618G=0.381
The Genome Aggregation DatabaseOtherSub300A=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.644G=0.355
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.580G=0.420
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
rs22531629.5E-05alcohol dependence24277619

eQTL of rs2253162 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 rs2253162 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.