rs2128158

Homo sapiens
G>A / G>C / G>T
KCNB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0116 (3483/29932,GnomAD)
A=0136 (3979/29118,TOPMED)
A=0109 (548/5008,1000G)
A=0092 (356/3854,ALSPAC)
A=0098 (363/3708,TWINSUK)
chr8:72917865 (GRCh38.p7) (8q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.72917865G>A
GRCh38.p7 chr 8NC_000008.11:g.72917865G>C
GRCh38.p7 chr 8NC_000008.11:g.72917865G>T
GRCh37.p13 chr 8NC_000008.10:g.73830100G>A
GRCh37.p13 chr 8NC_000008.10:g.73830100G>C
GRCh37.p13 chr 8NC_000008.10:g.73830100G>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
1000GenomesAfricanSub1322G=0.784A=0.216
1000GenomesAmericanSub694G=0.920A=0.080
1000GenomesEast AsianSub1008G=0.997A=0.003
1000GenomesEuropeSub1006G=0.890A=0.110
1000GenomesGlobalStudy-wide5008G=0.891A=0.109
1000GenomesSouth AsianSub978G=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.908A=0.092
The Genome Aggregation DatabaseAfricanSub8710G=0.803A=0.197
The Genome Aggregation DatabaseAmericanSub836G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1618G=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18466G=0.910A=0.089
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.883A=0.116
The Genome Aggregation DatabaseOtherSub302G=0.870A=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.863A=0.136
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.902A=0.098
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
rs21281582.28E-07alcohol consumption23953852

eQTL of rs2128158 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 rs2128158 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.