rs1251205

Homo sapiens
T>A
None
Check p-value
SNV (Single Nucleotide Variation)
T==0467 (13988/29894,GnomAD)
T==0430 (12536/29118,TOPMED)
A=0490 (2452/5008,1000G)
T==0477 (1840/3854,ALSPAC)
T==0491 (1822/3708,TWINSUK)
chr2:129229947 (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.129229947T>A
GRCh37.p13 chr 2NC_000002.11:g.129987520T>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.323A=0.677
1000GenomesAmericanSub694T=0.530A=0.470
1000GenomesEast AsianSub1008T=0.749A=0.251
1000GenomesEuropeSub1006T=0.460A=0.540
1000GenomesGlobalStudy-wide5008T=0.510A=0.490
1000GenomesSouth AsianSub978T=0.550A=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.477A=0.523
The Genome Aggregation DatabaseAfricanSub8688T=0.369A=0.631
The Genome Aggregation DatabaseAmericanSub838T=0.540A=0.460
The Genome Aggregation DatabaseEast AsianSub1618T=0.802A=0.198
The Genome Aggregation DatabaseEuropeSub18450T=0.482A=0.517
The Genome Aggregation DatabaseGlobalStudy-wide29894T=0.467A=0.532
The Genome Aggregation DatabaseOtherSub300T=0.430A=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.430A=0.569
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.491A=0.509
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
rs12512059.24E-07alcohol dependence (age at onset)24962325

eQTL of rs1251205 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 rs1251205 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 )
chr2129990903129991022E0703383
chr2129991443129991904E0703923
chr2129990903129991022E0813383
chr2129991443129991904E0813923
chr2129996773129997036E0819253
chr2130010223130010353E08122703
chr2130010398130011293E08122878
chr2129996773129997036E0829253
chr2130010223130010353E08222703