rs268928

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0473 (14099/29792,GnomAD)
A==0454 (13230/29118,TOPMED)
A==0464 (2324/5008,1000G)
G=0326 (1258/3854,ALSPAC)
G=0351 (1300/3708,TWINSUK)
chr8:52055258 (GRCh38.p7) (8q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.52055258A>G
GRCh37.p13 chr 8NC_000008.10:g.52967818A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.216G=0.784
1000GenomesAmericanSub694A=0.490G=0.510
1000GenomesEast AsianSub1008A=0.432G=0.568
1000GenomesEuropeSub1006A=0.665G=0.335
1000GenomesGlobalStudy-wide5008A=0.464G=0.536
1000GenomesSouth AsianSub978A=0.610G=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.674G=0.326
The Genome Aggregation DatabaseAfricanSub8650A=0.261G=0.739
The Genome Aggregation DatabaseAmericanSub834A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1608A=0.465G=0.535
The Genome Aggregation DatabaseEuropeSub18400A=0.656G=0.343
The Genome Aggregation DatabaseGlobalStudy-wide29792A=0.526G=0.473
The Genome Aggregation DatabaseOtherSub300A=0.750G=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.454G=0.545
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.649G=0.351
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
rs2689280.000737alcohol consumption (maxi-drinks)24277619

eQTL of rs268928 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 rs268928 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 )
chr85292074652920829E067-46989
chr85292083552921474E067-46344
chr85292058752920682E070-47136
chr85292074652920829E070-46989
chr85292083552921474E070-46344
chr85296992752969992E0702109
chr85298721552987333E07019397
chr85298739852987452E07019580
chr85292058752920682E072-47136
chr85292074652920829E074-46989
chr85292083552921474E074-46344
chr85292058752920682E081-47136
chr85292074652920829E081-46989
chr85292083552921474E081-46344
chr85298705152987126E08119233
chr85298721552987333E08119397
chr85298739852987452E08119580





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr85301344753013991E06845629
chr85301344753013991E06945629
chr85301344753013991E07045629
chr85301344753013991E07145629
chr85301344753013991E07245629
chr85301344753013991E07445629
chr85301344753013991E08245629