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 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 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081 1999
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 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 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449 2014