rs1127354, ITPA

N. diseases: 26
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.
Inosine Triphosphatase Deficiency
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
4 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.700 0
Agranulocytosis
CUI: C0001824
Disease: Agranulocytosis
8 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2009 2009
Bone Marrow Suppression
CUI: C0280962
Disease: Bone Marrow Suppression
2 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2009 2009
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2014 2014
Coinfection
CUI: C0275524
Disease: Coinfection
11 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2011 2011
Febrile Neutropenia
CUI: C0746883
Disease: Febrile Neutropenia
14 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2010 2010
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1 2017 2017
Hepatitis
CUI: C0019158
Disease: Hepatitis
42 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2017 2017
Hepatitis A
CUI: C0019159
Disease: Hepatitis A
27 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2017 2017
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2006 2006
Juvenile arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2015 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2013 2013
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2014 2014
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2011 2011
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
60 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2019 2019
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2010 2015
Anemia, severe
CUI: C0238644
Disease: Anemia, severe
6 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2013 2019
Childhood Acute Lymphoblastic Leukemia
261 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2010 2015
Influenza-like symptoms
CUI: C0392171
Disease: Influenza-like symptoms
4 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2008 2011
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.020 1.000 2 2006 2015
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.030 1.000 3 2010 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.030 1.000 3 2009 2012
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.040 0.750 4 2012 2017
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
80 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.850 0.833 6 2010 2020
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.100 0.900 10 2011 2018