rs121913509, KIT

N. diseases: 2
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.
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 5 1999 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 2 2005 2014