CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Juvenile Myelomonocytic Leukemia ×
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: rs727504426
rs727504426 		0.882 0.320 11 119278508 splice acceptor variant A/G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 4 2009 2012
dbSNP: rs387906666
rs387906666 		0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs776906066
rs776906066 		1.000 0.080 11 119206455 missense variant G/A snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017