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: rs121913514
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.750 1.000 1 2006 2013
dbSNP: rs1057519709
rs1057519709
KIT
0.925 0.080 4 54733154 missense variant GA/AT mnv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2009 2013
dbSNP: rs121913506
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2009 2013