Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516083
rs397516083
MYBPC3
T 0.700 CausalMutation CLINVAR Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies. 27834932

2016
dbSNP: rs397516083
rs397516083
MYBPC3
T 0.700 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs397516083
rs397516083
MYBPC3
T 0.700 CausalMutation CLINVAR Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 24113344

2014
dbSNP: rs397516083
rs397516083
MYBPC3
T 0.700 CausalMutation CLINVAR Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic. 21488307

2010
dbSNP: rs397516083
rs397516083
MYBPC3
T 0.700 CausalMutation CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692

2010