rs1057519710, KIT

N. diseases: 22
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
melanoma
CUI: C0025202
Disease: melanoma
515 0.695 0.280 4 54733166 missense variant G/C;T snv 0.710 1.000 10 1995 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.695 0.280 4 54733166 missense variant G/C;T snv 0.030 1.000 3 2004 2013
Benign Mastocytoma
CUI: C2242987
Disease: Benign Mastocytoma
4 0.695 0.280 4 54733166 missense variant G/C;T snv 0.020 1.000 2 1996 1998
Dysgerminoma
CUI: C0013377
Disease: Dysgerminoma
3 0.695 0.280 4 54733166 missense variant G/C;T snv 0.020 1.000 2 1999 2017
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
7 0.695 0.280 4 54733166 missense variant G/C;T snv 0.020 1.000 2 1998 2019
Mast Cell Neoplasm
CUI: C0334664
Disease: Mast Cell Neoplasm
4 0.695 0.280 4 54733166 missense variant G/C;T snv 0.020 1.000 2 1996 1998
Mastocytoma
CUI: C0024897
Disease: Mastocytoma
4 0.695 0.280 4 54733166 missense variant G/C;T snv 0.020 1.000 2 1996 1998
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
11 0.695 0.280 4 54733166 missense variant G/C;T snv 0.020 1.000 2 2014 2017
Adult Teratoma
CUI: C1368898
Disease: Adult Teratoma
3 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2019 2019
Childhood Teratoma
CUI: C2347762
Disease: Childhood Teratoma
3 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2019 2019
Gastric Gastrointestinal Stromal Tumor
1 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2010 2010
Gastrointestinal Carcinoid Tumor
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
13 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Germ cell tumor
CUI: C0205851
Disease: Germ cell tumor
5 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2009 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 1999 1999
Ovarian germ cell tumour mixed
CUI: C0280135
Disease: Ovarian germ cell tumour mixed
2 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2009 2009
Seminoma
CUI: C0036631
Disease: Seminoma
12 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 1999 1999
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2019 2019
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2005 2005