Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473305
rs199473305
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. 25904541

2015
dbSNP: rs199473305
rs199473305
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome. 22984773

2013
dbSNP: rs199473305
rs199473305
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
dbSNP: rs199473305
rs199473305
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. 15023552

2004
dbSNP: rs199473305
rs199473305
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. 12639704

2003