rs12531066

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0100 (2997/29856,GnomAD)
G=0128 (3743/29118,TOPMED)
G=0188 (943/5008,1000G)
G=0064 (246/3854,ALSPAC)
G=0064 (236/3708,TWINSUK)
chr7:6286516 (GRCh38.p7) (7p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.6286516A>G
GRCh37.p13 chr 7NC_000007.13:g.6326147A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.864G=0.136
1000GenomesAmericanSub694A=0.890G=0.110
1000GenomesEast AsianSub1008A=0.674G=0.326
1000GenomesEuropeSub1006A=0.939G=0.061
1000GenomesGlobalStudy-wide5008A=0.812G=0.188
1000GenomesSouth AsianSub978A=0.700G=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.936G=0.064
The Genome Aggregation DatabaseAfricanSub8686A=0.871G=0.129
The Genome Aggregation DatabaseAmericanSub838A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1608A=0.679G=0.321
The Genome Aggregation DatabaseEuropeSub18422A=0.934G=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29856A=0.899G=0.100
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.871G=0.128
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.936G=0.064
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

P-Value

SNP ID p-value Traits Study
rs125310662.13E-05alcohol dependence21314694

eQTL of rs12531066 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 rs12531066 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 )
chr763128526313419E067-12728
chr762961876297042E068-29105
chr762949726295022E069-31125
chr762950776295299E069-30848
chr763080656309055E069-17092
chr762879456288071E071-38076
chr762880926288627E071-37520
chr762886496288735E071-37412
chr762999676301189E071-24958
chr763080656309055E071-17092
chr763090696309422E071-16725
chr763100896310187E071-15960
chr763128526313419E071-12728
chr763060996306402E072-19745
chr763064686306570E072-19577
chr763065956306757E072-19390
chr763067586306835E072-19312
chr762865406287081E073-39066
chr762874606287518E073-38629
chr762875246287580E073-38567
chr762875846287645E073-38502
chr762999676301189E073-24958
chr763728526373038E07346705
chr763733416373422E07347194
chr763090696309422E074-16725
chr763094996309578E074-16569
chr763624996363049E07436352
chr763128526313419E081-12728
chr763624996363049E08136352








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr763101976312020E067-14127
chr763120996312841E067-13306
chr763101976312020E068-14127
chr763120996312841E068-13306
chr763101976312020E069-14127
chr763120996312841E069-13306
chr763101976312020E070-14127
chr763120996312841E070-13306
chr763101976312020E071-14127
chr763120996312841E071-13306
chr763101976312020E072-14127
chr763120996312841E072-13306
chr763101976312020E073-14127
chr763120996312841E073-13306
chr763101976312020E074-14127
chr763120996312841E074-13306
chr763101976312020E081-14127
chr763101976312020E082-14127
chr763120996312841E082-13306