Source: BEFREE

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 6 2001 2014
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2009 2009
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2009 2009