rs12666547

Homo sapiens
C>A
STK31 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0383 (11457/29900,GnomAD)
A=0345 (10067/29118,TOPMED)
A=0394 (1973/5008,1000G)
A=0399 (1538/3854,ALSPAC)
A=0402 (1490/3708,TWINSUK)
chr7:23792484 (GRCh38.p7) (7p15.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.23792484C>A
GRCh37.p13 chr 7NC_000007.13:g.23832103C>A

Gene: STK31, serine/threonine kinase 31(plus strand)

Molecule type Change Amino acid[Codon] SO Term
STK31 transcript variant 4NM_001260504.1:c.N/AIntron Variant
STK31 transcript variant 5NM_001260505.1:c.N/AIntron Variant
STK31 transcript variant 1NM_031414.4:c.N/AIntron Variant
STK31 transcript variant 2NM_032944.3:c.N/AIntron Variant
STK31 transcript variant 3NR_048542.1:n.N/AIntron Variant
STK31 transcript variant X4XM_006715758.3:c.N/AIntron Variant
STK31 transcript variant X1XM_011515449.2:c.N/AIntron Variant
STK31 transcript variant X2XM_011515450.1:c.N/AIntron Variant
STK31 transcript variant X3XM_011515452.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.790A=0.210
1000GenomesAmericanSub694C=0.660A=0.340
1000GenomesEast AsianSub1008C=0.393A=0.607
1000GenomesEuropeSub1006C=0.562A=0.438
1000GenomesGlobalStudy-wide5008C=0.606A=0.394
1000GenomesSouth AsianSub978C=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.601A=0.399
The Genome Aggregation DatabaseAfricanSub8704C=0.758A=0.242
The Genome Aggregation DatabaseAmericanSub836C=0.650A=0.350
The Genome Aggregation DatabaseEast AsianSub1598C=0.324A=0.676
The Genome Aggregation DatabaseEuropeSub18460C=0.576A=0.423
The Genome Aggregation DatabaseGlobalStudy-wide29900C=0.616A=0.383
The Genome Aggregation DatabaseOtherSub302C=0.450A=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.654A=0.345
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.598A=0.402
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
rs126665470.000538alcohol dependence21314694

eQTL of rs12666547 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 rs12666547 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 )
chr72383132823831688E081-415
chr72383198623832036E081-67