Disease: Congenital long QT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473103
rs199473103
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1141890
Disease:
Congenital long QT syndrome 		0.010 GeneticVariation BEFREE We conclude that the A390V mutation disrupted binding with PMCA4b, released inhibition of nNOS, caused S-nitrosylation of SCN5A, and was associated with increased late sodium current, which is the characteristic biophysical dysfunction for sodium-channel-mediated LQTS (LQT3). 18591664 2008