Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906666
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.710 1.000 1 2015 2015
dbSNP: rs1301481068
rs1301481068
CBL
1.000 0.080 11 119232532 missense variant C/T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1328906812
rs1328906812
CBL
1.000 0.040 11 119278530 missense variant T/G snv
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs267606704
rs267606704
CBL
1.000 11 119278170 missense variant A/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs267606704
rs267606704
CBL
1.000 11 119278170 missense variant A/C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs267606705
rs267606705
CBL
0.925 0.040 11 119278214 missense variant A/G snv
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs267606706
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2010 2010
dbSNP: rs267606706
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.010 1.000 1 2017 2017
dbSNP: rs267606706
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs267606708
rs267606708
CBL
0.925 0.040 11 119278541 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2007 2007
dbSNP: rs387906666
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs387906666
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs756530482
rs756530482
CBL
1.000 0.040 11 119278525 missense variant G/A snv 4.0E-06
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs757874631
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs757874631
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs757874631
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs757874631
rs757874631
CBL
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: rs776906066
rs776906066
CBL
1.000 0.080 11 119206455 missense variant G/A snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.010 1.000 1 2012 2012