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Erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia

TPMT · rs10949482

Where this position leads

Drug: Thiopurines

rs10949482 Drug: Thiopurines Thiopurines Drug rs10949482 rs10949482 TPMT

What the study found

Who was studied up to 454 European ancestry individuals.

The effect The reported allele is T; the catalogue records no effect size ; p = 1 × 10−20.

Where it sits Chromosome 6, band 6p22.3 — in the 3′ untranslated region of NHLRC1.

What ClinVar records

Classification Benign for Lafora disease; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-14. ClinVar record 356069 NM_198586.3(NHLRC1):c.*336G>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C No copy of the version the research linked to Erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs10949482

What is rs10949482?

rs10949482 is a single position in the genome, in or near the TPMT gene. Published research associates it with erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs10949482 affect how medicines work?

TPMT carries pharmacogenomic findings for Thiopurines. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs10949482 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs10949482 come from?

GWAS Catalog, Leukemia 2018, PMID:30201983. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia (rs10949482). MyGeneLog™. https://www.mygenelog.com/variants/rs10949482

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