rs1251210

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0450 (13221/29362,GnomAD)
A=0449 (13074/29118,TOPMED)
A=0356 (1785/5008,1000G)
A=0496 (1913/3854,ALSPAC)
A=0487 (1806/3708,TWINSUK)
chr2:129225968 (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.129225968G>A
GRCh37.p13 chr 2NC_000002.11:g.129983541G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.582A=0.418
1000GenomesAmericanSub694G=0.680A=0.320
1000GenomesEast AsianSub1008G=0.843A=0.157
1000GenomesEuropeSub1006G=0.488A=0.512
1000GenomesGlobalStudy-wide5008G=0.644A=0.356
1000GenomesSouth AsianSub978G=0.660A=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.504A=0.496
The Genome Aggregation DatabaseAfricanSub8570G=0.589A=0.411
The Genome Aggregation DatabaseAmericanSub820G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1612G=0.862A=0.138
The Genome Aggregation DatabaseEuropeSub18058G=0.499A=0.500
The Genome Aggregation DatabaseGlobalStudy-wide29362G=0.549A=0.450
The Genome Aggregation DatabaseOtherSub302G=0.410A=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.551A=0.449
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.513A=0.487
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
rs12512109.42E-06alcohol dependence (age at onset)24962325

eQTL of rs1251210 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 rs1251210 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 )
chr2129990903129991022E0707362
chr2129991443129991904E0707902
chr2129990903129991022E0817362
chr2129991443129991904E0817902
chr2129996773129997036E08113232
chr2130010223130010353E08126682
chr2130010398130011293E08126857
chr2129996773129997036E08213232
chr2130010223130010353E08226682