Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913630
rs121913630
MYH7
0.710 GeneticVariation BEFREE The finding of HCM-specific pathology in neonatal R723G-piglets suggests a very early onset of the disease and highlights the importance of novel large animal models for studying causative mechanisms and long-term progression of human cardiac diseases. 29555974

2018
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes. 23318932

2013
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. 20819418

2010
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy. 17097032

2006
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. 12117842

2002
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. 11113006

2000
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 GeneticVariation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
A 0.710 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
C 0.710 CausalMutation CLINVAR