Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473076
rs199473076
SCN5A
0.010 GeneticVariation BEFREE Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. 29071820

2018
dbSNP: rs41261344
rs41261344
SCN5A
0.010 GeneticVariation BEFREE Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. 22519808

2012
dbSNP: rs199473153
rs199473153
SCN5A
0.010 GeneticVariation BEFREE Activation and repolarization characteristics of the explanted heart of a patient with a loss-of-function mutation in SCN5A (G752R) and dilated cardiomyopathy were determined after induction of right-sided ST-segment elevation by ajmaline. 20022821

2010