Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60682848
rs60682848
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. 19638735

2009
dbSNP: rs60682848
rs60682848
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 19882644

2010
dbSNP: rs60682848
rs60682848
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001
dbSNP: rs60682848
rs60682848
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007
dbSNP: rs60682848
rs60682848
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.710 CausalMutation CLINVAR Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. 21315846

2011