Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854601
rs137854601
SCN5A
0.720 GeneticVariation BEFREE E1784K is the most common mixed syndrome SCN5a mutation underpinning both Brugada syndrome type 1 (BrS1) and Long-QT syndrome type 3 (LQT3). 29483621

2018
dbSNP: rs137854601
rs137854601
SCN5A
0.720 GeneticVariation BEFREE We demonstrate a strong genotype-phenotype correlation with complete penetrance for BrS, LQTS, or CCD in the largest family harboring SCN5A-E1784K mutation described so far. 27381756

2016
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873

2008
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction. 18451998

2008
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Gene sequencing in neonates and infants with the long QT syndrome. 16379539

2005
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697

2003
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Natural history of Brugada syndrome: insights for risk stratification and management. 11901046

2002
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. 10961955

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.720 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999