MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Familial Hypertrophic Cardiomyopathy Type 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922384
rs193922384
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR