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: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.850 1.000 7 1998 2017
dbSNP: rs121913679
rs121913679
KIT
1.000 0.120 4 54728121 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs121913680
rs121913680
KIT
0.925 0.200 4 54727515 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs121913687
rs121913687
KIT
1.000 0.120 4 54736552 missense variant A/C snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs28933371
rs28933371
KIT
1.000 0.120 4 54727519 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell 		0.800 1.000 0 2004 2019
dbSNP: rs794726671
rs794726671
KIT
1.000 0.120 4 54727520 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 0
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.730 1.000 5 1999 2018
dbSNP: rs121913684
rs121913684
KIT
0.925 0.120 4 54733094 missense variant A/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.700 1.000 8 1991 2000
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: rs121913509
rs121913509
KIT
1.000 0.080 4 54736528 missense variant G/A snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 1.000 5 1999 2014
dbSNP: rs1057519709
rs1057519709
KIT
0.925 0.080 4 54733154 missense variant GA/AT mnv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 0
dbSNP: rs1057519713
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.700 0
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
dbSNP: rs121913514
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.700 0
dbSNP: rs145602440
rs145602440
KIT
1.000 0.080 4 54733118 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs751005114
rs751005114
KIT
1.000 0.080 4 54731395 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0