rs12090194

This is a regulatory region 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.

P wave terminal force measurement

Christophersen IE et al. “Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.” Circulation. Cardiovascular Genetics 10(4) (2017)
Allele T
OR 119.00
p 6.0e-19
N 40,733
Large GWAS
multi-ancestry

QRS duration

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.03
p 2.0e-16
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

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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