rs1401543

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0258 (7724/29896,GnomAD)
C=0285 (8308/29118,TOPMED)
C=0197 (986/5008,1000G)
C=0215 (827/3854,ALSPAC)
C=0205 (760/3708,TWINSUK)
chr3:135868969 (GRCh38.p7) (3q22.2)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.135868969T>C
GRCh37.p13 chr 3NC_000003.11:g.135587811T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.593C=0.407
1000GenomesAmericanSub694T=0.850C=0.150
1000GenomesEast AsianSub1008T=0.995C=0.005
1000GenomesEuropeSub1006T=0.789C=0.211
1000GenomesGlobalStudy-wide5008T=0.803C=0.197
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.785C=0.215
The Genome Aggregation DatabaseAfricanSub8704T=0.615C=0.385
The Genome Aggregation DatabaseAmericanSub836T=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1616T=0.998C=0.002
The Genome Aggregation DatabaseEuropeSub18438T=0.771C=0.228
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.741C=0.258
The Genome Aggregation DatabaseOtherSub302T=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.714C=0.285
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.795C=0.205
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
22216198A genome-wide association study of the Protein C anticoagulant pathway.Athanasiadis GPLoS One

P-Value

SNP ID p-value Traits Study
rs14015430.000402alcohol dependence21314694

eQTL of rs1401543 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 rs1401543 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 )
chr3135570164135570328E070-17483
chr3135570613135570851E070-16960
chr3135570927135570977E070-16834
chr3135571371135571421E070-16390