Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503252
rs727503252
MYH7
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503252
rs727503252
MYH7
T 0.700 CausalMutation CLINVAR Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. 28193612

2017
dbSNP: rs727503252
rs727503252
MYH7
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families. 20038417

2009
dbSNP: rs727503252
rs727503252
MYH7
T 0.700 CausalMutation CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005
dbSNP: rs727503252
rs727503252
MYH7
T 0.700 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003