Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		T 0.800 CausalMutation CLINVAR

dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2012
dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Paralogous annotation of disease-causing variants in long QT syndrome genes. 22581653

2012
dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. 17561957

2007
dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 11804990

2002
dbSNP: rs137854607
rs137854607
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		G 0.700 CausalMutation CLINVAR