rs121913506, KIT

N. diseases: 24
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 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 8 1995 2011
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 5 1999 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.710 1.000 5 2005 2014
Benign Mastocytoma
CUI: C2242987
Disease: Benign Mastocytoma
4 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.020 1.000 2 1996 1998
Dysgerminoma
CUI: C0013377
Disease: Dysgerminoma
3 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.020 1.000 2 1999 2017
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
7 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.020 1.000 2 1998 2019
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 2 2009 2013
Mast Cell Neoplasm
CUI: C0334664
Disease: Mast Cell Neoplasm
4 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.020 1.000 2 1996 1998
Mastocytoma
CUI: C0024897
Disease: Mastocytoma
4 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.020 1.000 2 1996 1998
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
11 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.020 1.000 2 2014 2017
Adult Teratoma
CUI: C1368898
Disease: Adult Teratoma
3 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Childhood Teratoma
CUI: C2347762
Disease: Childhood Teratoma
3 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Gastrointestinal Carcinoid Tumor
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
13 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Germ cell tumor
CUI: C0205851
Disease: Germ cell tumor
5 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 1 2006 2006
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 1999 1999
Ovarian germ cell tumour mixed
CUI: C0280135
Disease: Ovarian germ cell tumour mixed
2 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Seminoma
CUI: C0036631
Disease: Seminoma
12 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 1999 1999
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
31 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
1 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0
Testicular Neoplasms
CUI: C0039590
Disease: Testicular Neoplasms
31 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0