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: rs121913235
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.730 1.000 9 1999 2018
dbSNP: rs121913235
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 14 1995 2012
dbSNP: rs121913235
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0040100
Disease: Thymoma
Thymoma
0.700 1.000 2 2003 2012