rs45489199, SCN5A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.020 GeneticVariation BEFREE In HEK293 cells, P2006A displayed biophysical defects typically associated with long QT syndrome by increasing persistent sodium current, producing a depolarizing shift in voltage dependence of inactivation, and hastening recovery from inactivation. 21109022 2011
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.020 GeneticVariation BEFREE Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. 17210841 2007
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE The P2006A variant was found in three CAD controls. 21410720 2011