Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534

2015
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome. 21273195

2011
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2010
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209

2009
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR A calcium sensor in the sodium channel modulates cardiac excitability. 11807557

2002
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 GeneticVariation CLINVAR Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282

1999
dbSNP: rs137854603
rs137854603
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		T 0.800 CausalMutation CLINVAR