rs2252399

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0462 (13827/29878,GnomAD)
C=0498 (14509/29118,TOPMED)
A==0500 (2503/5008,1000G)
C=0422 (1625/3854,ALSPAC)
C=0434 (1611/3708,TWINSUK)
chr8:52039413 (GRCh38.p7) (8q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.52039413A>C
GRCh37.p13 chr 8NC_000008.10:g.52951973A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.393C=0.607
1000GenomesAmericanSub694A=0.570C=0.430
1000GenomesEast AsianSub1008A=0.445C=0.555
1000GenomesEuropeSub1006A=0.600C=0.400
1000GenomesGlobalStudy-wide5008A=0.500C=0.500
1000GenomesSouth AsianSub978A=0.540C=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.578C=0.422
The Genome Aggregation DatabaseAfricanSub8702A=0.413C=0.587
The Genome Aggregation DatabaseAmericanSub836A=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1604A=0.486C=0.514
The Genome Aggregation DatabaseEuropeSub18434A=0.596C=0.403
The Genome Aggregation DatabaseGlobalStudy-wide29878A=0.537C=0.462
The Genome Aggregation DatabaseOtherSub302A=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.501C=0.498
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.566C=0.434
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
rs22523990.000979alcohol consumption (maxi-drinks)24277619

eQTL of rs2252399 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 rs2252399 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 )
chr85292074652920829E067-31144
chr85292083552921474E067-30499
chr85292058752920682E070-31291
chr85292074652920829E070-31144
chr85292083552921474E070-30499
chr85296992752969992E07017954
chr85298721552987333E07035242
chr85298739852987452E07035425
chr85292058752920682E072-31291
chr85292074652920829E074-31144
chr85292083552921474E074-30499
chr85292058752920682E081-31291
chr85292074652920829E081-31144
chr85292083552921474E081-30499
chr85298705152987126E08135078
chr85298721552987333E08135242
chr85298739852987452E08135425