Arrhythmia & Heart Rhythm
How your genes affect cardiac ion channels, heart rhythm, and arrhythmia risk
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Genetic Variants (6)
Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal for atrial fibrillation susceptibility
Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 causing Long QT syndrome type 3 through persistent late sodium current and prolonged ventricular repolarization
Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 causing congenital sick sinus syndrome through altered channel inactivation kinetics
Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that senses blood flow shear stress; the G allele is associated with elevated varicose vein risk in genome-wide studies of over 800,000 individuals
Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shortens QTc interval and confers ~2.4x increased risk of early-onset lone atrial fibrillation in homozygous T allele carriers
Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulates QTc interval duration; C allele shortens QTc by ~1.4 ms per allele and tags an independent repolarization-modifying signal at the KCNH2 locus