Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225097
rs863225097
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
G 0.800 GeneticVariation CLINVAR

dbSNP: rs727504240
rs727504240
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. 19666645

2009

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands. 20646679

2010

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005

dbSNP: rs727504238
rs727504238
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
C 0.800 GeneticVariation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation 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: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045

2012

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy. 22455086

2012

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 23711808

2013

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. 25086479

2015

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005

dbSNP: rs727503278
rs727503278
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
A 0.800 GeneticVariation CLINVAR Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. 12820698

2003

dbSNP: rs727503261
rs727503261
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
G 0.800 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015

dbSNP: rs727503261
rs727503261
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
G 0.800 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006

dbSNP: rs727503261
rs727503261
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
G 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015

dbSNP: rs727503261
rs727503261
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
G 0.800 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs727503261
rs727503261
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
G 0.800 CausalMutation CLINVAR [Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype]. 16630449

2006