rs13251382

Homo sapiens
A>G / A>T
KCNB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0480 (14357/29868,GnomAD)
G=0462 (13480/29118,TOPMED)
G=0378 (1891/5008,1000G)
A==0420 (1619/3854,ALSPAC)
A==0433 (1607/3708,TWINSUK)
chr8:72922542 (GRCh38.p7) (8q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.72922542A>G
GRCh38.p7 chr 8NC_000008.11:g.72922542A>T
GRCh37.p13 chr 8NC_000008.10:g.73834777A>G
GRCh37.p13 chr 8NC_000008.10:g.73834777A>T

Gene: KCNB2, potassium voltage-gated channel subfamily B member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNB2 transcriptNM_004770.2:c.N/AIntron Variant
KCNB2 transcript variant X3XM_017013981.1:c.N/AIntron Variant
KCNB2 transcript variant X4XM_017013982.1:c.N/AGenic Upstream Transcript Variant
KCNB2 transcript variant X1XR_001745620.1:n.N/AIntron Variant
KCNB2 transcript variant X2XR_001745621.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.641G=0.359
1000GenomesAmericanSub694A=0.640G=0.360
1000GenomesEast AsianSub1008A=0.874G=0.126
1000GenomesEuropeSub1006A=0.454G=0.546
1000GenomesGlobalStudy-wide5008A=0.622G=0.378
1000GenomesSouth AsianSub978A=0.500G=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.420G=0.580
The Genome Aggregation DatabaseAfricanSub8686A=0.626G=0.374
The Genome Aggregation DatabaseAmericanSub836A=0.670G=0.33,
The Genome Aggregation DatabaseEast AsianSub1606A=0.856G=0.144
The Genome Aggregation DatabaseEuropeSub18438A=0.435G=0.564
The Genome Aggregation DatabaseGlobalStudy-wide29868A=0.519G=0.480
The Genome Aggregation DatabaseOtherSub302A=0.360G=0.64,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.537G=0.462
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.433G=0.567
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs132513829.31E-05alcohol consumption23953852

eQTL of rs13251382 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 rs13251382 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 )
chr88758679187586845E070-35532
chr88763869687638899E07016319