Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41261344
rs41261344
SCN5A
0.050 GeneticVariation BEFREE The purpose of this study was to compare the functional properties of R1193Q with those of the well-studied type 3 long QT syndrome mutation ΔKPQ. 30677491

2019
dbSNP: rs41261344
rs41261344
SCN5A
0.050 GeneticVariation BEFREE SCN5A(R1193Q) is often identified in patients with type 3 long QT syndrome and Brugada syndrome. 30419068

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

2012
dbSNP: rs41261344
rs41261344
SCN5A
0.050 GeneticVariation BEFREE It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. 22682427

2012
dbSNP: rs41261344
rs41261344
SCN5A
0.050 GeneticVariation BEFREE The R1193Q SCN5A variant was recently associated with LQTS, BS and cardiac conductance disease. 16568155

2006