MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Biventricular hypertrophy ×
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: rs397516074
rs397516074 		0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012