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
90 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.860 0.833 12 1998 2016
melanoma
CUI: C0025202
Disease: melanoma
389 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.700 18 1995 2015
Thymoma
CUI: C0040100
Disease: Thymoma
17 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.700 3 2004 2012
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
6 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.700 1 2001 2001
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
6 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.700 1 2001 2001
leukemia
CUI: C0023418
Disease: leukemia
76 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.010 1.000 1 2010 2010
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
10 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.010 1.000 1 2007 2007
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
5 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.010 1.000 1 2014 2014