Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy]. 23906401

2013

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy]. 23906401

2013

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. 21533915

2011

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. 20161772

2010

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. 20161772

2010

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150

2009

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150

2009

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. 18408133

2008

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. 17463320

2007

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. 17463320

2007

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415

2006

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. 17027633

2006

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415

2006

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398

2005

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398

2005

dbSNP: rs104894729
rs104894729
0.710 GeneticVariation BEFREE To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398

2005

dbSNP: rs104894729
rs104894729
T 0.710 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003

dbSNP: rs104894729
rs104894729
G 0.710 GeneticVariation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003

dbSNP: rs104894729
rs104894729
A 0.710 GeneticVariation CLINVAR