Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 9544842

1998

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. 9822100

1998

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. 9154300

1997

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications. 9001794

1996

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. 7874131

1994

dbSNP: rs121913637
rs121913637
A 0.720 CausalMutation CLINVAR Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 8282798

1994