Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11708996
rs11708996
C 0.820 GeneticVariation GWASDB Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013

dbSNP: rs11708996
rs11708996
C 0.820 GeneticVariation GWASCAT Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 15520322

2004

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. 11827685

2002

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. 11123251

2001

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. 11029409

2000

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999

dbSNP: rs199473282
rs199473282
A 0.740 GeneticVariation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805

2014

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. 24529773

2014

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. 22899775

2012

dbSNP: rs137854601
rs137854601
T 0.720 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome. 21273195

2011

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. 22028457

2011

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations. 21840964

2011

dbSNP: rs28937318
rs28937318
T 0.720 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010