Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515893
rs397515893
MYBPC3
T 0.700 CausalMutation CLINVAR Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. 28797094

2017
dbSNP: rs397515893
rs397515893
MYBPC3
T 0.700 CausalMutation CLINVAR Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. 23782526

2013
dbSNP: rs397515893
rs397515893
MYBPC3
T 0.700 CausalMutation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
dbSNP: rs397515893
rs397515893
MYBPC3
T 0.700 CausalMutation CLINVAR Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. 12110947

2002