rs2952621

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0471 (14073/29882,GnomAD)
T==0438 (12755/29118,TOPMED)
C=0485 (2430/5008,1000G)
T==0477 (1840/3854,ALSPAC)
T==0493 (1827/3708,TWINSUK)
chr2:129240870 (GRCh38.p7) (2q21.1)
AD
GWASdb2
3   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129240870T>C
GRCh37.p13 chr 2NC_000002.11:g.129998443T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.334C=0.666
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.748C=0.252
1000GenomesEuropeSub1006T=0.464C=0.536
1000GenomesGlobalStudy-wide5008T=0.515C=0.485
1000GenomesSouth AsianSub978T=0.560C=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.477C=0.523
The Genome Aggregation DatabaseAfricanSub8688T=0.377C=0.623
The Genome Aggregation DatabaseAmericanSub832T=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1618T=0.802C=0.198
The Genome Aggregation DatabaseEuropeSub18444T=0.482C=0.517
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.471C=0.529
The Genome Aggregation DatabaseOtherSub300T=0.440C=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.438C=0.562
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=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
24832863Association of substance dependence phenotypes in the COGA sample.Wetherill LAddict Biol
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs29526210.000000764alcohol dependence (age at onset)24962325
rs29526210.00000951alcohol dependence23089632

eQTL of rs2952621 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 rs2952621 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 )
chr2129990903129991022E070-7421
chr2129991443129991904E070-6539
chr2129990903129991022E081-7421
chr2129991443129991904E081-6539
chr2129996773129997036E081-1407
chr2130010223130010353E08111780
chr2130010398130011293E08111955
chr2130038915130039052E08140472
chr2130039472130039687E08141029
chr2130039843130039996E08141400
chr2129996773129997036E082-1407
chr2130010223130010353E08211780
chr2130038591130038845E08240148
chr2130038915130039052E08240472
chr2130039472130039687E08241029
chr2130039843130039996E08241400