Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 28771489

2017
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940

2016
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. 26383716

2015
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 23782526

2013
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692

2010
dbSNP: rs397516000
rs397516000
MYBPC3
G 0.700 GeneticVariation CLINVAR Malignant mutations in hypertrophic cardiomyopathy: fact or fancy? 16335287

2005