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: rs11217191
rs11217191 		11 119223937 intron variant G/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs267606704
rs267606704 		1.000 11 119278170 missense variant A/C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs267606704
rs267606704 		1.000 11 119278170 missense variant A/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs36109901
rs36109901 		11 119212608 intron variant A/C snv 0.27
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
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: rs68034047
rs68034047 		11 119260224 intron variant TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTT delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7108857
rs7108857 		11 119206293 upstream gene variant C/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs267606704
rs267606704 		1.000 11 119278170 missense variant A/C;G snv
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.800 0
dbSNP: rs267606707
rs267606707 		1.000 11 119278238 missense variant G/T snv
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.800 0
dbSNP: rs387906664
rs387906664 		1.000 11 119278220 missense variant T/C;G snv
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs387906665
rs387906665 		1.000 11 119278256 missense variant T/A;C snv
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs397507489
rs397507489 		1.000 11 119232558 stop gained T/C;G snv 4.0E-06
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.700 0
dbSNP: rs727504640
rs727504640 		1.000 11 119285379 missense variant G/A;T snv 1.2E-05; 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 		0.700 0
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: rs1328906812
rs1328906812 		1.000 0.040 11 119278530 missense variant T/G snv
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		Neoplasms 0.010 1.000 1 2011 2011
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: rs267606705
rs267606705 		0.925 0.040 11 119278214 missense variant A/G snv
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs267606708
rs267606708 		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 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs4936467
rs4936467 		1.000 0.040 11 119215919 intron variant T/A snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4938638
rs4938638 		1.000 0.040 11 119204719 upstream gene variant G/A snv 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4938642
rs4938642 		1.000 0.040 11 119229196 intron variant G/C snv 6.0E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs4938642
rs4938642 		1.000 0.040 11 119229196 intron variant G/C snv 6.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017