rs12311304

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0352 (10543/29928,GnomAD)
C=0363 (10594/29118,TOPMED)
C=0331 (1658/5008,1000G)
C=0314 (1211/3854,ALSPAC)
C=0328 (1216/3708,TWINSUK)
chr12:15236703 (GRCh38.p7) (12p12.3)
AD
GWASCatalog
1   publication(s)
See rs on genome
34 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.15236703T>C
GRCh37.p13 chr 12NC_000012.11:g.15389637T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.504C=0.496
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.759C=0.241
1000GenomesEuropeSub1006T=0.665C=0.335
1000GenomesGlobalStudy-wide5008T=0.669C=0.331
1000GenomesSouth AsianSub978T=0.720C=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.686C=0.314
The Genome Aggregation DatabaseAfricanSub8698T=0.530C=0.470
The Genome Aggregation DatabaseAmericanSub838T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1618T=0.784C=0.216
The Genome Aggregation DatabaseEuropeSub18472T=0.684C=0.315
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.647C=0.352
The Genome Aggregation DatabaseOtherSub302T=0.680C=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.636C=0.363
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.672C=0.328
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs123113044E-06alcohol dependence23942779

eQTL of rs12311304 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 rs12311304 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 )
chr121537509615375150E067-14487
chr121537526515375417E067-14220
chr121533994915340050E068-49587
chr121534689115347350E068-42287
chr121534737215347448E068-42189
chr121534749515347641E068-41996
chr121534807015348846E068-40791
chr121536056815360622E068-29015
chr121536069215360742E068-28895
chr121536876315368813E068-20824
chr121536893115369131E068-20506
chr121537509615375150E068-14487
chr121537526515375417E068-14220
chr121539315415393198E0703517
chr121543163615432842E07041999
chr121543288515433148E07043248
chr121537509615375150E072-14487
chr121537526515375417E072-14220
chr121542895615429610E07439319
chr121534628215346469E081-43168
chr121534807015348846E081-40791
chr121536428215364381E081-25256
chr121536553415365599E081-24038
chr121536560515365883E081-23754
chr121536664615367166E081-22471
chr121537509615375150E081-14487
chr121543060315430653E08140966
chr121543163615432842E08141999
chr121534661515346858E082-42779
chr121534689115347350E082-42287
chr121534737215347448E082-42189
chr121534749515347641E082-41996
chr121536553415365599E082-24038
chr121536560515365883E082-23754







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr121537345815374927E067-14710
chr121537221715372267E068-17370
chr121537227415372324E068-17313
chr121537236715372417E068-17220
chr121537243915372489E068-17148
chr121537269415372746E068-16891
chr121537278115372838E068-16799
chr121537287115373126E068-16511
chr121537313815373387E068-16250
chr121537345815374927E068-14710
chr121537345815374927E069-14710
chr121537345815374927E070-14710
chr121537345815374927E071-14710
chr121537345815374927E072-14710
chr121537287115373126E073-16511
chr121537313815373387E073-16250
chr121537345815374927E073-14710
chr121537345815374927E074-14710