rs811029

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0358 (10748/29952,GnomAD)
G=0311 (9068/29118,TOPMED)
G=0378 (1892/5008,1000G)
G=0384 (1479/3854,ALSPAC)
G=0394 (1461/3708,TWINSUK)
chr19:27912644 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27912644A>G
GRCh37.p13 chr 19NC_000019.9:g.28403552A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.786G=0.214
1000GenomesAmericanSub694A=0.580G=0.420
1000GenomesEast AsianSub1008A=0.455G=0.545
1000GenomesEuropeSub1006A=0.618G=0.382
1000GenomesGlobalStudy-wide5008A=0.622G=0.378
1000GenomesSouth AsianSub978A=0.610G=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.616G=0.384
The Genome Aggregation DatabaseAfricanSub8720A=0.760G=0.240
The Genome Aggregation DatabaseAmericanSub836A=0.540G=0.460
The Genome Aggregation DatabaseEast AsianSub1620A=0.425G=0.575
The Genome Aggregation DatabaseEuropeSub18474A=0.609G=0.391
The Genome Aggregation DatabaseGlobalStudy-wide29952A=0.641G=0.358
The Genome Aggregation DatabaseOtherSub302A=0.620G=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.688G=0.311
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.606G=0.394
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
rs8110290.000225alcohol consumption (maxi-drinks)24277619

eQTL of rs811029 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:28403552CTC-459F4.6ENSG00000267264.1A>G1.9152e-8109106Cerebellum
Chr19:28403552AC022153.1ENSG00000267623.2A>G2.5001e-310049Cerebellar_Hemisphere

meQTL of rs811029 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 )
chr192839590628395983E067-7569
chr192839623828396327E067-7225
chr192839660028397548E067-6004
chr192839590628395983E068-7569
chr192839623828396327E068-7225
chr192839660028397548E068-6004
chr192839660028397548E069-6004
chr192839590628395983E071-7569
chr192839623828396327E071-7225
chr192839660028397548E071-6004
chr192839623828396327E072-7225
chr192839660028397548E072-6004
chr192839623828396327E073-7225
chr192839623828396327E074-7225
chr192839660028397548E074-6004
chr192844632028446447E08142768
chr192844652228446797E08142970