rs121913682, KIT

N. diseases: 52
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.
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
11 0.605 0.400 4 54733167 missense variant A/G;T snv 0.800 0.987 76 1998 2020
MASTOCYTOSIS, SYSTEMIC, SOMATIC
CUI: C4749053
Disease: MASTOCYTOSIS, SYSTEMIC, SOMATIC
1 0.605 0.400 4 54733167 missense variant A/G;T snv 0.700 0
Mastocytosis
CUI: C0024899
Disease: Mastocytosis
8 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 0.967 30 1995 2020
Leukemia, Mast-Cell
CUI: C0023461
Disease: Leukemia, Mast-Cell
7 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 12 2004 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 12 2005 2018
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 11 1998 2019
Indolent Systemic Mastocytosis
CUI: C0272203
Disease: Indolent Systemic Mastocytosis
2 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 0.900 10 2002 2020
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.605 0.400 4 54733167 missense variant A/G;T snv 0.040 1.000 4 2007 2018
leukemia
CUI: C0023418
Disease: leukemia
144 0.605 0.400 4 54733167 missense variant A/G;T snv 0.040 1.000 4 2007 2018
Core binding factor acute myeloid leukemia
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
3 0.605 0.400 4 54733167 missense variant A/G;T snv 0.030 1.000 3 2012 2019
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
18 0.605 0.400 4 54733167 missense variant A/G;T snv 0.030 1.000 3 1999 2018
Aggressive Systemic Mastocytosis
CUI: C1112486
Disease: Aggressive Systemic Mastocytosis
2 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2014 2014
Chronic eosinophilic leukemia
CUI: C0346421
Disease: Chronic eosinophilic leukemia
9 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2012
Eosinophilia
CUI: C0014457
Disease: Eosinophilia
23 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2015
Eosinophilic disorder
CUI: C1306759
Disease: Eosinophilic disorder
22 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2015
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2014
Hematological Disease
CUI: C0018939
Disease: Hematological Disease
16 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 1995 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 0.500 2 2006 2006
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2005 2013
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2015 2018
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2008 2008
Adult Myelodysplastic Syndrome
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
20 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2005 2005
Aleukemic mast cell leukemia
CUI: C4749271
Disease: Aleukemic mast cell leukemia
2 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2004 2004
anaphylaxis
CUI: C0002792
Disease: anaphylaxis
4 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2017 2017
Benign Mastocytoma
CUI: C2242987
Disease: Benign Mastocytoma
4 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2013 2013