rs8008292

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0137 (4119/29986,GnomAD)
C=0150 (4381/29118,TOPMED)
C=0243 (1218/5008,1000G)
C=0094 (361/3854,ALSPAC)
C=0099 (367/3708,TWINSUK)
chr14:52301846 (GRCh38.p7) (14q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.52301846T>C
GRCh37.p13 chr 14NC_000014.8:g.52768564T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.822C=0.178
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.659C=0.341
1000GenomesEuropeSub1006T=0.905C=0.095
1000GenomesGlobalStudy-wide5008T=0.757C=0.243
1000GenomesSouth AsianSub978T=0.650C=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.906C=0.094
The Genome Aggregation DatabaseAfricanSub8732T=0.843C=0.157
The Genome Aggregation DatabaseAmericanSub838T=0.720C=0.280
The Genome Aggregation DatabaseEast AsianSub1614T=0.638C=0.362
The Genome Aggregation DatabaseEuropeSub18500T=0.897C=0.102
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.862C=0.137
The Genome Aggregation DatabaseOtherSub302T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.849C=0.150
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.901C=0.099
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs80082920.00026alcohol dependence(early age of onset)20201924
rs80082920.00042alcohol dependence20201924

eQTL of rs8008292 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 rs8008292 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 )
chr145275345252753716E068-14848
chr145275377552753937E068-14627
chr145275401052754297E068-14267
chr145275377552753937E069-14627
chr145275401052754297E069-14267
chr145275377552753937E071-14627
chr145275401052754297E071-14267
chr145275345252753716E072-14848
chr145275377552753937E072-14627
chr145275401052754297E072-14267
chr145281725252817487E08148688





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145273391352736133E067-32431
chr145277945952782715E06710895
chr145273391352736133E068-32431
chr145273391352736133E069-32431
chr145277945952782715E06910895
chr145277945952782715E07110895
chr145273391352736133E072-32431
chr145277945952782715E07210895
chr145273391352736133E073-32431
chr145277945952782715E07310895
chr145273391352736133E074-32431