rs137854601, SCN5A

N. diseases: 10
Disease: Congenital long QT syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449 2014
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465 2011
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998 2008
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR Gene sequencing in neonates and infants with the long QT syndrome. 16379539 2005
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR Natural history of Brugada syndrome: insights for risk stratification and management. 11901046 2002
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653 2000
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081 1999