rs45546039, SCN5A

N. diseases: 15
Disease: Brugada Syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels. 25741286 2015
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy. 25624448 2015
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523 2014
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. 25210054 2014
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484 2012
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724 2012
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342 2012
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645 2011
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 CausalMutation CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429 2005