CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Single transverse palmar crease ×
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: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0