Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854618
rs137854618
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E
T 0.800 CausalMutation CLINVAR

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. 26111534

2015

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 24136861

2014

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 24762805

2014

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death. 23791817

2013

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. 22247482

2012

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. 21824921

2011

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231

2011

dbSNP: rs137854618
rs137854618
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
T 0.700 CausalMutation CLINVAR A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 12522116

2003

dbSNP: rs137854618
rs137854618
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854618
rs137854618
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854618
rs137854618
CUI: C4016652
Disease: ATRIAL STANDSTILL 1, DIGENIC
ATRIAL STANDSTILL 1, DIGENIC
T 0.700 CausalMutation CLINVAR