rs1142345, TPMT

N. diseases: 9
Disease: Thiopurine S methyltranferase deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thiopurine S methyltranferase deficiency
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
0.020 GeneticVariation BEFREE Three main TPMT alleles: TPMT*2 (c.238G>C), TPMT*3A (c.460G>A, c.719A>G) and TPMT*3C (c.719A>G) account for 80-95 % of inherited TPMT deficiency in different populations in the world. 27307154 2016
Thiopurine S methyltranferase deficiency
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
0.020 GeneticVariation BEFREE The mutant alleles TPMT*2 (238G>C), TPMT*3A (460G>A, 719A>G), TPMT*3B (460G>A), and TPMT*3C (719A>G) account for 80-95% of TPMT deficiency observed in Caucasian populations. 14967158 2004