Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs371898076
rs371898076
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: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001

dbSNP: rs371898076
rs371898076
T 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999