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: rs1057520032
rs1057520032
KIT
1.000 4 54727438 stop gained G/A;C snv 4.0E-06
CUI: C2698309
Disease: B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged 		0.700 0
dbSNP: rs1560419312
rs1560419312
KIT
1.000 0.120 4 54729344 missense variant T/G snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs121913520
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.700 1.000 2 2009 2014
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 0
dbSNP: rs753212327
rs753212327
KIT
1.000 0.080 4 54727275 missense variant C/A;G;T snv 4.0E-06
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 0
dbSNP: rs1057519907
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1560419312
rs1560419312
KIT
1.000 0.120 4 54729344 missense variant T/G snv
CUI: C0016689
Disease: Freckles
Freckles 		0.700 0
dbSNP: rs1057519907
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913685
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913523
rs121913523
KIT
1.000 0.040 4 54728092 missense variant T/A;C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.730 0.900 9 2005 2019
dbSNP: rs121913516
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.750 1.000 7 2004 2019
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 6 1999 2018
dbSNP: rs1060502543
rs1060502543
KIT
4 54727501 inframe deletion GAT/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 5 1998 2015
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 5 1998 2017
dbSNP: rs121913506
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.710 1.000 4 2005 2014
dbSNP: rs121913521
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.740 0.875 4 1999 2016
dbSNP: rs1057519713
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 3 2007 2013
dbSNP: rs1057519761
rs1057519761
KIT
4 54733175 missense variant T/G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 3 2007 2013
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 3 2001 2014
dbSNP: rs121913514
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.700 1.000 3 2005 2014
dbSNP: rs121913520
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.710 1.000 3 2007 2013