Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473153
rs199473153
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. 25650408

2015
dbSNP: rs199473153
rs199473153
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 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: rs199473153
rs199473153
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209

2009
dbSNP: rs199473153
rs199473153
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. 20031634

2009
dbSNP: rs199473153
rs199473153
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads. 12693506

2003
dbSNP: rs199473153
rs199473153
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. 12106943

2002