Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714

2010

dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901

2010

dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465

2010

dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells]. 17386158

2007

dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578

2006

dbSNP: rs59270054
rs59270054
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 16266469

2005

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593

2013

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838

2008

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368

2003

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003

dbSNP: rs74315379
rs74315379
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322

2011

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195

2005

dbSNP: rs74315380
rs74315380
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.720 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. 25593317

2015