rs12131265

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0331 (9898/29834,GnomAD)
T=0308 (8982/29118,TOPMED)
T=0296 (1482/5008,1000G)
T=0454 (1750/3854,ALSPAC)
T=0428 (1588/3708,TWINSUK)
chr1:71246540 (GRCh38.p7) (1p31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.71246540C>T
GRCh37.p13 chr 1NC_000001.10:g.71712223C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.902T=0.098
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.742T=0.258
1000GenomesEuropeSub1006C=0.541T=0.459
1000GenomesGlobalStudy-wide5008C=0.704T=0.296
1000GenomesSouth AsianSub978C=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.546T=0.454
The Genome Aggregation DatabaseAfricanSub8710C=0.868T=0.132
The Genome Aggregation DatabaseAmericanSub836C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1560C=0.732T=0.268
The Genome Aggregation DatabaseEuropeSub18426C=0.569T=0.430
The Genome Aggregation DatabaseGlobalStudy-wide29834C=0.668T=0.331
The Genome Aggregation DatabaseOtherSub302C=0.570T=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.691T=0.308
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.572T=0.428
PMID Title Author Journal
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
rs121312651.34E-05alcohol dependence23089632

eQTL of rs12131265 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 rs12131265 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 )
chr17166715871667321E071-44902
chr17173459871734677E08122375
chr17169386471694248E082-17975
chr17169448271694706E082-17517
chr17169477971694919E082-17304
chr17169492171695025E082-17198