MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Left ventricular noncompaction ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727503166
rs727503166 		0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs573916965
rs573916965 		0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		Cardiovascular Diseases 0.700 0
dbSNP: rs730880336
rs730880336 		0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		Cardiovascular Diseases 0.700 0