Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1294950721
rs1294950721
JAG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554401403
rs1554401403
FLNC ; FLNC-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727503269
rs727503269
MYH7
C 0.700 CausalMutation CLINVAR

dbSNP: rs730880231
rs730880231
TNNI3
G 0.700 CausalMutation CLINVAR

dbSNP: rs727503513
rs727503513
TNNT2
A 0.700 GeneticVariation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs104894729
rs104894729
TNNI3
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
TNNI3
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
TNNI3
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
TNNI3
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: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006
dbSNP: rs104894729
rs104894729
TNNI3
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: rs727503503
rs727503503
TNNI3
T 0.700 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605

2007
dbSNP: rs104894729
rs104894729
TNNI3
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: rs397516153
rs397516153
MYH7
A 0.700 CausalMutation CLINVAR A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. 18380764

2008
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. 18076673

2008
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150

2009
dbSNP: rs727503503
rs727503503
TNNI3
T 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs727503504
rs727503504
TNNI3
A 0.700 GeneticVariation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs104894724
rs104894724
TNNI3
0.020 GeneticVariation BEFREE Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143

2009
dbSNP: rs104894729
rs104894729
TNNI3
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: rs727503244
rs727503244
MYH7 ; MIR208B ; MHRT
G 0.700 GeneticVariation CLINVAR Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. 20818890

2010
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 20394946

2010