ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.900 0.900 20 2010 2020
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.100 0.900 10 2011 2018
dbSNP: rs7270101
rs7270101 		0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.070 0.857 7 2011 2018
dbSNP: rs7270101
rs7270101 		0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.070 1.000 7 2011 2018
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.850 0.833 6 2010 2020
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.040 0.750 4 2012 2017
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2010 2015
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.030 1.000 3 2009 2012
dbSNP: rs7270101
rs7270101 		0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.030 1.000 3 2012 2013
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2010 2015
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2006 2015
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2019
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2010 2015
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		0.020 1.000 2 2008 2011
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0280962
Disease: Bone Marrow Suppression
Bone Marrow Suppression 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0019158
Disease: Hepatitis
Hepatitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2006 2006