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TPMT Thiopurine S-methyltransferase

TPMT (Thiopurine S-methyltransferase): 6 variants described, covering drug response, trait.

1 curated variant 2 imported

Which TPMT variants does Orviva describe?

rs1800460 Drug response
TPMT*3B homozygous. Deficient TPMT activity; thiopurines (azathioprine, mercaptopurine) require major dose reduction.
rs1142345 Drug response imported
TPMT *3C carrier. Intermediate metabolizer. Reduced thiopurine dose recommended.
rs1800462 Drug response imported
TPMT *2 carrier. No enzyme function from this allele. Reduced thiopurine dose recommended.

3 further TPMT variants in the knowledge base have only a brief annotation and are not listed here.

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.