Source: UNIPROT

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: rs121913506
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 1.000 5 1999 2014
dbSNP: rs121913506
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.700 0