rs1251215

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0471 (14098/29904,GnomAD)
C==0436 (12711/29118,TOPMED)
T=0488 (2443/5008,1000G)
C==0481 (1854/3854,ALSPAC)
C==0494 (1832/3708,TWINSUK)
chr2:129227581 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129227581C>T
GRCh37.p13 chr 2NC_000002.11:g.129985154C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.331T=0.669
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.747T=0.253
1000GenomesEuropeSub1006C=0.460T=0.540
1000GenomesGlobalStudy-wide5008C=0.512T=0.488
1000GenomesSouth AsianSub978C=0.550T=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.481T=0.519
The Genome Aggregation DatabaseAfricanSub8694C=0.382T=0.618
The Genome Aggregation DatabaseAmericanSub836C=0.540T=0.460
The Genome Aggregation DatabaseEast AsianSub1612C=0.802T=0.198
The Genome Aggregation DatabaseEuropeSub18460C=0.482T=0.517
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.471T=0.528
The Genome Aggregation DatabaseOtherSub302C=0.430T=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.436T=0.563
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.494T=0.506
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs12512159.24E-07alcohol dependence (age at onset)24962325

eQTL of rs1251215 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 rs1251215 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 )
chr2129990903129991022E0705749
chr2129991443129991904E0706289
chr2129990903129991022E0815749
chr2129991443129991904E0816289
chr2129996773129997036E08111619
chr2130010223130010353E08125069
chr2130010398130011293E08125244
chr2129996773129997036E08211619
chr2130010223130010353E08225069