CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Moderate intellectual disability ×
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: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0