Gene: SCN5A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 8541846

1995
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs28937316
rs28937316
SCN5A
T 0.800 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs28937317
rs28937317
SCN5A
C 0.800 CausalMutation CLINVAR

dbSNP: rs45546039
rs45546039
SCN5A
T 0.800 CausalMutation CLINVAR

dbSNP: rs72549410
rs72549410
SCN5A
T 0.800 CausalMutation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
dbSNP: rs137854613
rs137854613
SCN5A
A 0.700 CausalMutation CLINVAR High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 16325048

2005
dbSNP: rs137854613
rs137854613
SCN5A
A 0.700 CausalMutation CLINVAR Novel Brugada SCN5A mutation causing sudden death in children. 15840483

2005
dbSNP: rs137854613
rs137854613
SCN5A
A 0.700 CausalMutation CLINVAR Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. 20539757

2010
dbSNP: rs137854613
rs137854613
SCN5A
A 0.700 CausalMutation CLINVAR Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 14523039

2003
dbSNP: rs137854618
rs137854618
SCN5A
T 0.700 CausalMutation CLINVAR

dbSNP: rs199473119
rs199473119
SCN5A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199473220
rs199473220
SCN5A
A 0.700 CausalMutation CLINVAR

dbSNP: rs199473623
rs199473623
SCN5A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs370694515
rs370694515
SCN5A
T 0.700 CausalMutation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
dbSNP: rs397514251
rs397514251
SCN5A
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514449
rs397514449
SCN5A
CTCA 0.700 CausalMutation CLINVAR

dbSNP: rs749697698
rs749697698
SCN5A
G 0.700 GeneticVariation CLINVAR Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 14523039

2003
dbSNP: rs749697698
rs749697698
SCN5A
G 0.700 GeneticVariation CLINVAR Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617. 15665061

2005
dbSNP: rs749697698
rs749697698
SCN5A
G 0.700 CausalMutation CLINVAR

dbSNP: rs757532106
rs757532106
SCN5A
A 0.700 CausalMutation CLINVAR

dbSNP: rs765669597
rs765669597
SCN5A
C 0.700 CausalMutation CLINVAR

dbSNP: rs794728849
rs794728849
SCN5A
A 0.700 CausalMutation CLINVAR