rs121913514, 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.
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.763 0.240 4 54733174 missense variant T/A;G snv 0.750 1.000 6 2006 2013
Core binding factor acute myeloid leukemia
3 0.763 0.240 4 54733174 missense variant T/A;G snv 0.040 1.000 4 2017 2019
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.763 0.240 4 54733174 missense variant T/A;G snv 0.030 1.000 3 2011 2019
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 1.000 3 2005 2014
leukemia
CUI: C0023418
Disease: leukemia
144 0.763 0.240 4 54733174 missense variant T/A;G snv 0.030 1.000 3 2011 2019
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 1.000 2 2011 2012
Dysgerminoma
CUI: C0013377
Disease: Dysgerminoma
3 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2012 2012
Leukemogenesis
CUI: C0598766
Disease: Leukemogenesis
25 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2010 2010
Lymphoid leukemia
CUI: C0023448
Disease: Lymphoid leukemia
4 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2011 2011
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2011 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2011 2011
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
93 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 0