Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880750
rs730880750
MYH7
A 0.710 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs730880750
rs730880750
MYH7
A 0.710 GeneticVariation CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860

2014
dbSNP: rs730880750
rs730880750
MYH7
A 0.710 GeneticVariation CLINVAR Sarcomere gene mutations are associated with increased cardiovascular events in left ventricular hypertrophy: results from multicenter registration in Japan. 24621997

2013
dbSNP: rs730880750
rs730880750
MYH7
0.710 GeneticVariation BEFREE The proband patient with P106fs and R869C double mutation was diagnosed as having HCM at an earlier age (28 years of age) than her relatives with single mutation, and had greater wall thickness with left ventricular outflow obstruction. 21799269

2011
dbSNP: rs730880750
rs730880750
MYH7
A 0.710 GeneticVariation CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269

2011
dbSNP: rs730880750
rs730880750
MYH7
A 0.710 GeneticVariation CLINVAR A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy. 20350521

2010
dbSNP: rs730880750
rs730880750
MYH7
A 0.710 GeneticVariation CLINVAR Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. 10862102

2000