rs121913520, KIT

N. diseases: 4
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 54727443 missense variant G/A snv 0.710 1.000 3 2007 2013
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 1.000 0.080 4 54727443 missense variant G/A snv 0.700 1.000 2 2009 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 1.000 0.080 4 54727443 missense variant G/A snv 0.010 1.000 1 2007 2007
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 1.000 0.080 4 54727443 missense variant G/A snv 0.010 1.000 1 2019 2019