Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473108
rs199473108
SCN5A
0.010 GeneticVariation BEFREE A patient suffered from recurrent seizures during sleep and torsades de pointes with a QTc of 530 ms. Mutational analysis identified a N406K mutation in SCN5A. 29983085

2018
dbSNP: rs199473339
rs199473339
SCN5A
0.010 GeneticVariation BEFREE Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT syndrome mutations (KCNH2-R744X and SCN5A-E446K). 22338672

2012
dbSNP: rs79299226
rs79299226
SCN5A
0.010 GeneticVariation BEFREE The cardiac sodium channel (SCN5A) mutation L1825P has been identified in a patient with drug-induced torsade de pointes precipitated by the IKr blocker cisapride. 16301357

2005