Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy. 25624448

2015
dbSNP: rs45546039
rs45546039
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels. 25741286

2015