Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.850 1.000 16 1998 2017
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 18 1995 2014
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0040100
Disease: Thymoma
Thymoma 		0.700 1.000 3 2003 2012
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 0
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017