Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515939
rs397515939
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397516028
rs397516028
G 0.700 GeneticVariation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004

dbSNP: rs730880140
rs730880140
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510

2015

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578

1998

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities? 22122802

2011

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397515947
rs397515947
T 0.700 CausalMutation CLINVAR T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. 23549607

2013

dbSNP: rs727503204
rs727503204
T 0.700 CausalMutation CLINVAR Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. 21750094

2011

dbSNP: rs727503204
rs727503204
T 0.700 CausalMutation CLINVAR [Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene]. 17081393

2006

dbSNP: rs727503204
rs727503204
T 0.700 CausalMutation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009

dbSNP: rs876657704
rs876657704
G 0.700 CausalMutation CLINVAR