Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515907
rs397515907
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 GeneticVariation CLINVAR Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene. 16566405

2005
dbSNP: rs397515907
rs397515907
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 GeneticVariation CLINVAR Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578

1998
dbSNP: rs397515907
rs397515907
MYBPC3
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		T 0.800 CausalMutation CLINVAR