rs121913512, KIT

N. diseases: 9
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 0.851 0.120 4 54728055 missense variant A/C;G snv 0.760 1.000 8 2001 2014
melanoma
CUI: C0025202
Disease: melanoma
515 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 9 1995 2011
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2016 2016
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2001 2001
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
3 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 0
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.851 0.120 4 54728055 missense variant A/C;G snv 0.010 1.000 1 2009 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.120 4 54728055 missense variant A/C;G snv 0.010 1.000 1 2013 2013
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.851 0.120 4 54728055 missense variant A/C;G snv 0.010 1.000 1 2009 2009