TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
Disease: Thiopurine S methyltranferase deficiency ×
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: 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: 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: 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