rs794728843, SCN5A

N. diseases: 2
Disease: Brugada Syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995 2014
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 GeneticVariation CLINVAR Brugada syndrome 2012. 22789973 2012
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
0.700 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283 2010