Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45546039
rs45546039
T 0.710 CausalMutation CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012

dbSNP: rs45546039
rs45546039
T 0.710 CausalMutation CLINVAR R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724

2012

dbSNP: rs45546039
rs45546039
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
T 0.710 CausalMutation CLINVAR Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 22710484

2012

dbSNP: rs45546039
rs45546039
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
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
T 0.710 CausalMutation CLINVAR Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009

2010

dbSNP: rs45546039
rs45546039
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
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: rs199473161
rs199473161
A 0.700 GeneticVariation CLINVAR Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy. 24815523

2014

dbSNP: rs727504801
rs727504801
C 0.700 CausalMutation CLINVAR Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. 22899775

2012

dbSNP: rs727504801
rs727504801
C 0.700 CausalMutation CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231

2011

dbSNP: rs727504801
rs727504801
C 0.700 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010

dbSNP: rs199473161
rs199473161
A 0.700 GeneticVariation CLINVAR Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 18048769

2008

dbSNP: rs199473161
rs199473161
A 0.700 GeneticVariation CLINVAR Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. 17442746

2007

dbSNP: rs199473161
rs199473161
A 0.700 GeneticVariation CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429

2005

dbSNP: rs727504801
rs727504801
C 0.700 CausalMutation CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429

2005

dbSNP: rs727504801
rs727504801
C 0.700 CausalMutation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998