rs121913507, KIT

N. diseases: 49
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
Adult Myelodysplastic Syndrome
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
20 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2005 2005
Aleukemic mast cell leukemia
CUI: C4749271
Disease: Aleukemic mast cell leukemia
2 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2004 2004
anaphylaxis
CUI: C0002792
Disease: anaphylaxis
4 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2017 2017
Benign Mastocytoma
CUI: C2242987
Disease: Benign Mastocytoma
4 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2013 2013
Bone marrow infiltration
CUI: C3854434
Disease: Bone marrow infiltration
3 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2010 2010
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2003 2003
Childhood Myelodysplastic Syndrome
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
20 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2005 2005
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2018 2018
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
59 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2010 2010
Hypereosinophilia
CUI: C0745091
Disease: Hypereosinophilia
4 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2015 2015
Idiopathic anaphylaxis
CUI: C0413235
Disease: Idiopathic anaphylaxis
2 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2018 2018
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2013 2013
Mantle cell lymphoma
CUI: C4721414
Disease: Mantle cell lymphoma
19 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2010 2010
Mast Cell Neoplasm
CUI: C0334664
Disease: Mast Cell Neoplasm
4 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2013 2013
Mast-Cell Sarcoma
CUI: C0036221
Disease: Mast-Cell Sarcoma
4 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1 2013 2013
Mastocytoma
CUI: C0024897
Disease: Mastocytoma
4 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2013 2013
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
114 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2016 2016
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
Monoclonal mast cell activation syndrome
CUI: C4267893
Disease: Monoclonal mast cell activation syndrome
2 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2018 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1 2014 2014
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2011 2011
Myeloproliferative Neoplasm, Unclassifiable
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
3 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008