MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Dysmorphic features ×
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: rs387906397
rs387906397 		0.851 0.080 11 47333192 splice donor variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1995 2013