rs1251209

Homo sapiens
A>G / A>T
None
Check p-value
SNV (Single Nucleotide Variation)
G=0449 (13279/29526,GnomAD)
G=0453 (13207/29118,TOPMED)
G=0372 (1862/5008,1000G)
G=0496 (1911/3854,ALSPAC)
G=0488 (1808/3708,TWINSUK)
chr2:129225441 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129225441A>G
GRCh38.p7 chr 2NC_000002.12:g.129225441A>T
GRCh37.p13 chr 2NC_000002.11:g.129983014A>G
GRCh37.p13 chr 2NC_000002.11:g.129983014A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.580G=0.420
1000GenomesAmericanSub694A=0.610G=0.390
1000GenomesEast AsianSub1008A=0.817G=0.183
1000GenomesEuropeSub1006A=0.488G=0.512
1000GenomesGlobalStudy-wide5008A=0.628G=0.372
1000GenomesSouth AsianSub978A=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.504G=0.496
The Genome Aggregation DatabaseAfricanSub8624A=0.592G=0.408
The Genome Aggregation DatabaseAmericanSub826A=0.620G=0.38,
The Genome Aggregation DatabaseEast AsianSub1608A=0.848G=0.152
The Genome Aggregation DatabaseEuropeSub18166A=0.502G=0.497
The Genome Aggregation DatabaseGlobalStudy-wide29526A=0.550G=0.449
The Genome Aggregation DatabaseOtherSub302A=0.410G=0.59,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.546G=0.453
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.512G=0.488
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
rs12512096.5E-06alcohol dependence (age at onset)24962325

eQTL of rs1251209 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 rs1251209 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 )
chr2178873434178873654E067-16675
chr2178873434178873654E070-16675
chr2178936734178936810E07046405
chr2178873434178873654E081-16675
chr2178873434178873654E082-16675




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2178937095178938161E07046766
chr2178937095178938161E07146766
chr2178937095178938161E07246766
chr2178937095178938161E07346766
chr2178937095178938161E07446766
chr2178937095178938161E08246766