rs1251214

Homo sapiens
C>A / C>G
None
Check p-value
SNV (Single Nucleotide Variation)
A=0485 (14492/29834,GnomAD)
A=0498 (14514/29118,TOPMED)
A=0422 (2111/5008,1000G)
C==0481 (1852/3854,ALSPAC)
C==0493 (1827/3708,TWINSUK)
chr2:129227541 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129227541C>A
GRCh38.p7 chr 2NC_000002.12:g.129227541C>G
GRCh37.p13 chr 2NC_000002.11:g.129985114C>A
GRCh37.p13 chr 2NC_000002.11:g.129985114C>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.542A=0.458
1000GenomesAmericanSub694C=0.560A=0.440
1000GenomesEast AsianSub1008C=0.746A=0.254
1000GenomesEuropeSub1006C=0.460A=0.540
1000GenomesGlobalStudy-wide5008C=0.578A=0.422
1000GenomesSouth AsianSub978C=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.481A=0.519
The Genome Aggregation DatabaseAfricanSub8682C=0.531G=0.000
The Genome Aggregation DatabaseAmericanSub836C=0.560G=0.00,
The Genome Aggregation DatabaseEast AsianSub1606C=0.804G=0.000
The Genome Aggregation DatabaseEuropeSub18410C=0.480G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29834C=0.514G=0.000
The Genome Aggregation DatabaseOtherSub300C=0.410G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.501A=0.498
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.493A=0.507
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
rs12512149.24E-07alcohol dependence (age at onset)24962325

eQTL of rs1251214 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 rs1251214 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 )
chr21071021110710261E06719328
chr21070564810705901E06814765
chr21070614810706437E06815265
chr21070155510702164E06910672
chr21066659110666722E070-24161
chr21070032410700404E0709441
chr21070097910701032E07010096
chr21070564810705901E07014765
chr21070614810706437E07015265
chr21070155510702164E07110672
chr21070564810705901E07114765
chr21070614810706437E07115265
chr21073866110738886E07147778
chr21073935110739547E07448468
chr21073988010740026E07448997
chr21074008710740504E07449204