rs12044963

This is a downstream gene variant variant in the KCND3 gene.

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GWAS Catalog Trait Associations (2)

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

atrial fibrillation

Low SK et al. “Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.” Nature Genetics 49(6):953-958 (2017)
Allele A
OR 1.11
p 4.0e-15
N 36,792
Large GWAS
multi-ancestry
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele A
OR 1.08
p 2.0e-12
N 588,190
Large GWAS
multi-ancestry
Hong M et al. “Ethnic similarities in genetic polymorphisms associated with atrial fibrillation: Far East Asian vs European populations.” European Journal of Clinical Investigation 51(9):e13584 (2021)
Allele A
OR 1.15
p 1.0e-12
N 42,585
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients
AssociationN=1,000Kennedy RB et al.(2012)· Human Genetics

Genome-wide association study identifying SNPs associated with cytokine responses to vaccinia virus in 1,000 smallpox vaccine recipients. Multiple SNPs achieved genome-wide significance (p<5×10⁻⁷) for Th1 cytokines (IL-2, TNFα, IL-12p40) and inflammatory cytokines (IL-1β, IFNα, IL-6). Notable findings include rs16948200 in NGFR (12-fold difference in IL-2 secretion between genotypes), rs4251424 in IRAK4 (associated with TNFα), and rs2255327 in BLK (2-fold higher IL-6 in heterozygotes).

Traits studied:Cytokine response to vaccinia virusIFN alpha secretionIFN beta secretionIL-1 beta secretionIL-10 secretionIL-12p40 secretionIL-12p70 secretionIL-18 secretionIL-2 secretionIL-4 secretionIL-6 secretionInflammatory responseTNF alpha secretionTh1 immune responseTh2 immune response
PubMedDOIMetascience Observatory

About KCND3

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]

View all KCND3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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