Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 28420666

2017
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy. 25228707

2014
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. 23549607

2013
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854

2010
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
dbSNP: rs727503185
rs727503185
MYBPC3
T 0.700 GeneticVariation CLINVAR Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. 18761664

2008