Gene: SCN5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499900
rs1060499900
SCN5A
0.020 GeneticVariation BEFREE p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. 23085483

2013
dbSNP: rs1060499900
rs1060499900
SCN5A
0.020 GeneticVariation BEFREE Thus, the mutant‑induced changes contributed to the loss of function of Nav1.5 channels, which indicates that the p.D1690N variant may have a pathogenic role in BrS. 27108952

2016
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 Brugada syndrome 2012. 22789973

2012
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: 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
0.820 GeneticVariation BEFREE <b>Introduction:</b> A previous genome-wide association study found three genetic loci, rs9388451, rs10428132, and rs11708996, to increase the risk of Brugada Syndrome (BrS). 30042696

2018
dbSNP: rs11708996
rs11708996
SCN5A
0.820 GeneticVariation BEFREE We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. 24667784

2014
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: rs1237724419
rs1237724419
SCN5A
0.010 GeneticVariation BEFREE The W1191X mutation is associated with BS and resulted in the loss of function of the cardiac sodium channel. 17141278

2007
dbSNP: rs1366120635
rs1366120635
SCN5A
T 0.700 CausalMutation CLINVAR Brugada syndrome 2012. 22789973

2012
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 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 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 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