Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 23711808

2013
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. 23140321

2012
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. 20811150

2010
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 15858117

2005
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 10882745

2000
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 CausalMutation CLINVAR A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. 7848441

1994
dbSNP: rs121913641
rs121913641
MYH7
T 0.700 GeneticVariation CLINVAR