rs12744723

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0262 (7820/29846,GnomAD)
T=0195 (5679/29118,TOPMED)
T=0201 (1008/5008,1000G)
T=0338 (1304/3854,ALSPAC)
T=0326 (1208/3708,TWINSUK)
chr1:82718446 (GRCh38.p7) (1p31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.82718446C>T
GRCh37.p13 chr 1NC_000001.10:g.83184129C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.967T=0.033
1000GenomesAmericanSub694C=0.750T=0.250
1000GenomesEast AsianSub1008C=0.766T=0.234
1000GenomesEuropeSub1006C=0.715T=0.285
1000GenomesGlobalStudy-wide5008C=0.799T=0.201
1000GenomesSouth AsianSub978C=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.662T=0.338
The Genome Aggregation DatabaseAfricanSub8722C=0.924T=0.076
The Genome Aggregation DatabaseAmericanSub832C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1548C=0.745T=0.255
The Genome Aggregation DatabaseEuropeSub18442C=0.648T=0.351
The Genome Aggregation DatabaseGlobalStudy-wide29846C=0.738T=0.262
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.805T=0.195
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.674T=0.326
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
rs127447237.16E-05alcohol dependence21703634

eQTL of rs12744723 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 rs12744723 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.