Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147205617
rs147205617
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B
CUI: C1142166
Disease:
Brugada Syndrome (disorder)
0.010 GeneticVariation BEFREE The Val110Ile mutation of SCN3B is a relatively common cause of SCN5A-negative BrS in Japan, which has a reduced sodium current because of the loss of cell surface expression of Nav1.5. 23257389 2013
dbSNP: rs121918282
rs121918282
Entrez Id: 55800;105369543
Gene Symbol: SCN3B;LOC105369543
SCN3B;LOC105369543
CUI: C1142166
Disease:
Brugada Syndrome (disorder)
0.010 GeneticVariation BEFREE A missense mutation (L10P) was detected in exon 1 of SCN3B, the beta 3 subunit of the cardiac sodium channel, but not in any other gene known to be associated with Brugada syndrome or in 296 controls. 20031595 2009