rs17136627

This is a intron variant variant in the KCNN2 gene.

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GWAS Catalog Trait Associations (1)

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

coronary aneurysm

Kim JJ et al. “Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.” Journal of Human Genetics 58(8):521-5 (2013)
Allele A
OR 12.60
p 2.0e-8
N 140
Small GWAS
East Asian
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Research that mentions this SNP (1)

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Identification of the TIFAB Gene as a Susceptibility Locus for Coronary Artery Aneurysm in Patients with Kawasaki Disease
AssociationN=1,009Young-Chang Kwon et al.(2019)· Pediatric Cardiology

Genome-wide association study identifying rs899162 in the TIFAB-DCANP1 locus as significantly associated with coronary artery aneurysm (diameter ≥5 mm) formation in Kawasaki disease patients. Combined analysis of initial GWAS (33 cases/215 controls) and replication cohort (12 cases/532 controls) showed rs899162 associated with CAA susceptibility (OR=3.20, 95% CI=2.02-5.05, P=1.95×10⁻⁷), suggesting TIFAB as a CAA susceptibility locus in KD.

Traits studied:Coronary artery aneurysmKawasaki disease
PubMedDOIMetascience Observatory

About KCNN2

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. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

View all KCNN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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