CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
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: rs757874631
rs757874631 		0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs757874631
rs757874631 		0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs757874631
rs757874631 		0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs387906666
rs387906666 		0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
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
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs387906664
rs387906664 		1.000 11 119278220 missense variant T/C;G snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs757874631
rs757874631 		0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0
dbSNP: rs397517077
rs397517077 		0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
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: 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
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: rs387906666
rs387906666 		0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1047417
rs1047417 		1.000 0.040 11 119301826 3 prime UTR variant A/G snv 0.24
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11217184
rs11217184 		1.000 0.040 11 119208283 intron variant A/G snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12786104
rs12786104 		1.000 0.040 11 119226075 intron variant T/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2276083
rs2276083 		1.000 0.040 11 119274564 intron variant A/G snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2511856
rs2511856 		1.000 0.040 11 119273438 intron variant G/T snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs267606706
rs267606706 		0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2010 2010