rs4375253

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0498 (14878/29874,GnomAD)
C==0479 (13951/29118,TOPMED)
T=0414 (2075/5008,1000G)
C==0484 (1865/3854,ALSPAC)
C==0486 (1802/3708,TWINSUK)
chr1:118322345 (GRCh38.p7) (1p12)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.118322345C>T
GRCh37.p13 chr 1NC_000001.10:g.118864968C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.425T=0.575
1000GenomesAmericanSub694C=0.680T=0.320
1000GenomesEast AsianSub1008C=0.707T=0.293
1000GenomesEuropeSub1006C=0.517T=0.483
1000GenomesGlobalStudy-wide5008C=0.586T=0.414
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.484T=0.516
The Genome Aggregation DatabaseAfricanSub8680C=0.432T=0.568
The Genome Aggregation DatabaseAmericanSub836C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1604C=0.690T=0.310
The Genome Aggregation DatabaseEuropeSub18452C=0.503T=0.496
The Genome Aggregation DatabaseGlobalStudy-wide29874C=0.498T=0.502
The Genome Aggregation DatabaseOtherSub302C=0.520T=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.479T=0.520
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.486T=0.514
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs43752538.11E-05alcohol dependence21703634

eQTL of rs4375253 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 rs4375253 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 )
chr1118837539118838215E068-26753
chr1118837475118837532E071-27436
chr1118837539118838215E071-26753
chr1118837539118838215E072-26753
chr1118837247118837389E074-27579
chr1118837475118837532E074-27436
chr1118837539118838215E074-26753
chr1118818519118818717E081-46251
chr1118837539118838215E082-26753
chr1118876584118876811E08211616
chr1118881430118881685E08216462
chr1118881689118881885E08216721
chr1118882125118882365E08217157