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: rs770088052
rs770088052
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1141890
Disease:
Congenital long QT syndrome 		0.010 GeneticVariation BEFREE However, the SCN5A variants R568H and A993T can be classified as pathogenic LQTS3 causing mutations, while R222stop and R2012H are novel BrS causing mutations. 27287068 2016