TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
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: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs79050301
rs79050301 		1.000 0.120 6 18151959 intron variant T/C snv 4.5E-02
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2008 2013
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.030 1.000 3 2008 2013
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2008 2013
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
Thiopurine S methyltranferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders 0.020 1.000 2 2004 2016
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-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 2009 2011
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2009 2011
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2006 2017
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2011
dbSNP: rs1800462
rs1800462 		0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
Thiopurine S methyltranferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders 0.020 1.000 2 2004 2016
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345 		0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs143125661
rs143125661 		0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs143125661
rs143125661 		0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs143125661
rs143125661 		0.882 0.120 6 18149120 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs1800460
rs1800460 		0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
Thiopurine S methyltranferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1800462
rs1800462 		0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800462
rs1800462 		0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs1800462
rs1800462 		0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1800462
rs1800462 		0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013