Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. 26798387

2016
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. 22247482

2012
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip. 23139254

2012
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis. 19026623

2009
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. 14961552

2003
dbSNP: rs137854604
rs137854604
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 10940383

2000