CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
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: rs397517076
rs397517076 		0.925 0.160 11 119278165 splice acceptor variant G/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2010 2017