MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Left ventricular noncompaction ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503166
rs727503166
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1960469
Disease:
Left ventricular noncompaction 		C 0.700 CausalMutation CLINVAR Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 20031619 2009
dbSNP: rs573916965
rs573916965
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1960469
Disease:
Left ventricular noncompaction 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs730880336
rs730880336
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1960469
Disease:
Left ventricular noncompaction 		ATGCCG 0.700 CausalMutation CLINVAR