rs121913517, 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.
melanoma
CUI: C0025202
Disease: melanoma
515 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 18 1995 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 16 1998 2017
Thymoma
CUI: C0040100
Disease: Thymoma
20 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 3 2003 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 0
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
3 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 0