Source: CLINVAR

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: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.760 1.000 3 2001 2014
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 9 1995 2011
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 2001 2001
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0