rs199473631, SCN5A

N. diseases: 3
Disease: Cardiac Arrhythmia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
0.010 GeneticVariation BEFREE These findings suggest that the Na(v)1.5/V1763M channel dysfunction and possible neighboring mutants contribute to a persistent inward current due to altered inactivation kinetics and clinically congenital LQTS with perinatal onset of arrhythmias that responded to lidocaine and mexiletine. 15485686 2004