rs12472824

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0396 (11872/29932,GnomAD)
T=0349 (10170/29118,TOPMED)
T=0421 (2108/5008,1000G)
T=0456 (1758/3854,ALSPAC)
T=0469 (1740/3708,TWINSUK)
chr2:129232274 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129232274C>T
GRCh37.p13 chr 2NC_000002.11:g.129989847C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.835T=0.165
1000GenomesAmericanSub694C=0.490T=0.510
1000GenomesEast AsianSub1008C=0.293T=0.707
1000GenomesEuropeSub1006C=0.572T=0.428
1000GenomesGlobalStudy-wide5008C=0.579T=0.421
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.544T=0.456
The Genome Aggregation DatabaseAfricanSub8724C=0.791T=0.209
The Genome Aggregation DatabaseAmericanSub836C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1612C=0.223T=0.777
The Genome Aggregation DatabaseEuropeSub18458C=0.553T=0.446
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.603T=0.396
The Genome Aggregation DatabaseOtherSub302C=0.620T=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.650T=0.349
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.531T=0.469
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
rs124728248.18E-06alcohol dependence (age at onset)24962325

eQTL of rs12472824 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 rs12472824 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 )
chr2129990903129991022E0701056
chr2129991443129991904E0701596
chr2129990903129991022E0811056
chr2129991443129991904E0811596
chr2129996773129997036E0816926
chr2130010223130010353E08120376
chr2130010398130011293E08120551
chr2130038915130039052E08149068
chr2130039472130039687E08149625
chr2129996773129997036E0826926
chr2130010223130010353E08220376
chr2130038591130038845E08248744
chr2130038915130039052E08249068
chr2130039472130039687E08249625