rs121913516, KIT

N. diseases: 6
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 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.750 1.000 12 2004 2019
Gastrointestinal Neoplasms
CUI: C0017185
Disease: Gastrointestinal Neoplasms
3 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016