Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 25335496

2015
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR A hypertrophic cardiomyopathy-associated MYBPC3 mutation common in populations of South Asian descent causes contractile dysfunction. 25583989

2015
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. 21959974

2012
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients. 21915287

2011
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR Limited distribution of a cardiomyopathy-associated variant in India. 20201939

2010
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. 19151713

2009
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. 18273486

2008
dbSNP: rs36212066
rs36212066
MYBPC3
A 0.700 GeneticVariation CLINVAR Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. 12788380

2003