Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.800 CausalMutation CLINVAR

dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome. 22277643

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231

2011
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009

2010
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 21167004

2010
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 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
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 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
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels. 25741286

2015
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias. 25210054

2014
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523

2014
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645

2011
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 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
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429

2005
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		T 0.700 CausalMutation CLINVAR

dbSNP: rs45546039
rs45546039
SCN5A
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		T 0.700 CausalMutation CLINVAR

dbSNP: rs45546039
rs45546039
SCN5A
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		T 0.700 CausalMutation CLINVAR