Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.840 CausalMutation CLINVAR

dbSNP: rs137854601
rs137854601
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014
dbSNP: rs137854601
rs137854601
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 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
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs137854601
rs137854601
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 CausalMutation CLINVAR Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype. 18451998

2008
dbSNP: rs137854601
rs137854601
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs137854601
rs137854601
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs137854601
rs137854601
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.820 GeneticVariation CLINVAR

dbSNP: rs137854614
rs137854614
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		C 0.810 CausalMutation CLINVAR

dbSNP: rs199473283
rs199473283
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.810 GeneticVariation CLINVAR

dbSNP: rs199473311
rs199473311
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		C 0.810 CausalMutation CLINVAR

dbSNP: rs199473603
rs199473603
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		A 0.810 CausalMutation CLINVAR High prevalence of genetic variants previously associated with LQT syndrome in new exome data. 22378279

2012
dbSNP: rs199473603
rs199473603
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		A 0.810 CausalMutation CLINVAR High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. 22685113

2012
dbSNP: rs199473603
rs199473603
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		A 0.810 CausalMutation CLINVAR Cardiac sodium channel dysfunction in sudden infant death syndrome. 17210841

2007
dbSNP: rs199473603
rs199473603
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		A 0.810 CausalMutation CLINVAR "Letter by O'Rourke regarding articles, ""Prevalence of long-QT syndrome gene variants in sudden infant death syndrome,"" ""Cardiac sodium channel dysfunction in sudden infant death syndrome,"" and ""Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?""." 17646591

2007
dbSNP: rs199473603
rs199473603
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		A 0.810 CausalMutation CLINVAR Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 10508990

1999
dbSNP: rs199473603
rs199473603
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854601
rs137854601
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs137854602
rs137854602
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs137854602
rs137854602
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534

2015
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome. 21273195

2011
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209

2009
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR A calcium sensor in the sodium channel modulates cardiac excitability. 11807557

2002