rs1251216

Homo sapiens
G>C
None
Check p-value
SNV (Single Nucleotide Variation)
G==0466 (13957/29890,GnomAD)
G==0431 (12561/29118,TOPMED)
C=0489 (2449/5008,1000G)
G==0480 (1849/3854,ALSPAC)
G==0493 (1828/3708,TWINSUK)
chr2:129227637 (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.129227637G>C
GRCh37.p13 chr 2NC_000002.11:g.129985210G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.327C=0.673
1000GenomesAmericanSub694G=0.530C=0.470
1000GenomesEast AsianSub1008G=0.747C=0.253
1000GenomesEuropeSub1006G=0.459C=0.541
1000GenomesGlobalStudy-wide5008G=0.511C=0.489
1000GenomesSouth AsianSub978G=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.480C=0.520
The Genome Aggregation DatabaseAfricanSub8690G=0.373C=0.627
The Genome Aggregation DatabaseAmericanSub838G=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1612G=0.801C=0.199
The Genome Aggregation DatabaseEuropeSub18448G=0.479C=0.520
The Genome Aggregation DatabaseGlobalStudy-wide29890G=0.466C=0.533
The Genome Aggregation DatabaseOtherSub302G=0.410C=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.431C=0.568
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.493C=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
rs12512169.24E-07alcohol dependence (age at onset)24962325

eQTL of rs1251216 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 rs1251216 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 )
chr2129990903129991022E0705693
chr2129991443129991904E0706233
chr2129990903129991022E0815693
chr2129991443129991904E0816233
chr2129996773129997036E08111563
chr2130010223130010353E08125013
chr2130010398130011293E08125188
chr2129996773129997036E08211563
chr2130010223130010353E08225013