Gene: SCN5A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501114
rs1060501114
SCN5A
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501127
rs1060501127
SCN5A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501130
rs1060501130
SCN5A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501135
rs1060501135
SCN5A
T 0.700 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs1060501135
rs1060501135
SCN5A
T 0.700 CausalMutation CLINVAR Brugada syndrome 2012. 22789973

2012
dbSNP: rs1060501136
rs1060501136
SCN5A
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501142
rs1060501142
SCN5A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060501145
rs1060501145
SCN5A
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064792926
rs1064792926
SCN5A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064795784
rs1064795784
SCN5A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691708
rs1131691708
SCN5A
C 0.700 CausalMutation CLINVAR

dbSNP: rs11708996
rs11708996
SCN5A
C 0.820 GeneticVariation GWASDB Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013
dbSNP: rs11708996
rs11708996
SCN5A
C 0.820 GeneticVariation GWASCAT Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634

2013
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Exercise-induced ECG changes in Brugada syndrome. 19843921

2009
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Brugada syndrome 2012. 22789973

2012
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters. 29202755

2017
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111

2015
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Clinical aspects and prognosis of Brugada syndrome in children. 17404158

2007
dbSNP: rs1377226524
rs1377226524
SCN5A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854600
rs137854600
SCN5A
T 0.700 CausalMutation CLINVAR Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. 9495298

1998
dbSNP: rs137854600
rs137854600
SCN5A
T 0.700 CausalMutation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
dbSNP: rs137854600
rs137854600
SCN5A
T 0.700 CausalMutation CLINVAR Intrinsic mechanism of the enhanced rate-dependent QT shortening in the R1623Q mutant of the LQT3 syndrome. 15621041

2005
dbSNP: rs137854600
rs137854600
SCN5A
T 0.700 CausalMutation CLINVAR "A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome." 10772658

2000
dbSNP: rs137854600
rs137854600
SCN5A
T 0.700 CausalMutation CLINVAR Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3. 19167409

2009