Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2016
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 22765922

2012
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. 21252143

2011
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876

2011
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond. 20075948

2010
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. 18383048

2008
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs397516209
rs397516209
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: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. 12820698

2003
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 CausalMutation CLINVAR Molecular etiology of idiopathic cardiomyopathy in Asian populations. 11433818

2001
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR