rs121913521, KIT

N. diseases: 12
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.
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.740 0.875 8 1999 2016
melanoma
CUI: C0025202
Disease: melanoma
515 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.700 1.000 2 2008 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.040 0.750 4 2005 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.020 1.000 2 2015 2019
leukemia
CUI: C0023418
Disease: leukemia
144 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.020 1.000 2 2015 2019
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
11 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.020 1.000 2 2007 2017
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2007 2007
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
7 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2013 2013
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
Mastocytosis
CUI: C0024899
Disease: Mastocytosis
8 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2013 2013
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1 2007 2007
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017