FLT3, fms related receptor tyrosine kinase 3, 2322

N. diseases: 270; N. variants: 54
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: rs1057519766
rs1057519766 		0.851 0.080 13 28028203 missense variant G/C;T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057519766
rs1057519766 		0.851 0.080 13 28028203 missense variant G/C;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519766
rs1057519766 		0.851 0.080 13 28028203 missense variant G/C;T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057519766
rs1057519766 		0.851 0.080 13 28028203 missense variant G/C;T snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057520026
rs1057520026 		0.925 0.040 13 28028244 missense variant T/G snv
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1200462604
rs1200462604 		1.000 0.040 13 28028234 missense variant G/A snv 4.0E-06
CUI: C0205788
Disease: Histiocytoid hemangioma
Histiocytoid hemangioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs121913488
rs121913488 		0.807 0.120 13 28018505 missense variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121913488
rs121913488 		0.807 0.120 13 28018505 missense variant C/A;G;T snv
CUI: C3896960
Disease: Childhood Pre-B Acute Lymphoblastic Leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121913488
rs121913488 		0.807 0.120 13 28018505 missense variant C/A;G;T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121913488
rs121913488 		0.807 0.120 13 28018505 missense variant C/A;G;T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs12430881
rs12430881 		1.000 0.120 13 28020665 intron variant T/C snv 0.28
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1244282842
rs1244282842 		1.000 0.040 13 28052566 missense variant A/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2491231
rs2491231 		0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2491231
rs2491231 		0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs35602083
rs35602083 		0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs35602083
rs35602083 		0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs35602083
rs35602083 		0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs35602083
rs35602083 		0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs35958982
rs35958982 		1.000 0.120 13 28034336 missense variant C/T snv 1.3E-02 5.0E-02
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs371663652
rs371663652 		1.000 0.040 13 28062006 missense variant C/T snv 4.0E-05 6.3E-05
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs374234147
rs374234147 		1.000 0.040 13 28057443 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3829382
rs3829382 		0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3829382
rs3829382 		0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs759272576
rs759272576 		1.000 0.040 13 28027224 missense variant A/G snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs762392769
rs762392769 		1.000 0.040 13 28018553 missense variant C/T snv 8.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009