MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Overgrowth ×
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: rs977277400
rs977277400 		11 47336012 splice acceptor variant C/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 1995 2013