CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Noonan Syndrome 1 ×
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: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0