Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs121913628
rs121913628
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: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. 10024460

1999
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992