Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473282
rs199473282
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.740 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199473282
rs199473282
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		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
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		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
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		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
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		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
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.740 GeneticVariation CLINVAR Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. 11123251

2001
dbSNP: rs199473282
rs199473282
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		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
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.740 GeneticVariation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
dbSNP: rs199473282
rs199473282
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.740 GeneticVariation CLINVAR Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999
dbSNP: rs199473282
rs199473282
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.740 GeneticVariation CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998