rs13376333

This is a intron variant variant in the KCNN3 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

atrial fibrillation

Ellinor PT et al. “Common variants in KCNN3 are associated with lone atrial fibrillation.” Nature Genetics 42(3):240-4 (2010)
Allele T
OR 1.52
p 2.0e-21
N 14,179
Large GWAS
European
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Research that mentions this SNP (1)

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Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population
AssociationN=2,097Cong Li et al.(2011)· Human Genetics

Case-control association study of 650 Chinese Han AF patients and 1,447 controls identified significant association between rs2106261 in ZFHX3 and atrial fibrillation (OR=1.32, P=0.001 for allelic frequencies; OR=1.77, P=0.00018 for recessive model). Two other SNPs tested (rs7193343 in ZFHX3 and rs13376333 in KCNN3) showed no association, suggesting population-specific genetic architecture at the 16q22 locus.

Traits studied:Atrial fibrillationLone atrial fibrillation
PubMedDOIMetascience Observatory

About KCNN3

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

View all KCNN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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