rs1800462
NM_000367.2(TPMT):c.238G>C (p.Ala80Pro)
- Thiopurine S-methyltransferase deficiencyDrug response · germline
gnomAD allele frequency 1.24e-3
rs1800462 is a genetic variant located in the TPMT gene. dbsnp · gene
In gnomAD, rs1800462 has an overall allele frequency of 0.12%. gnomad · frequency
In ClinVar, rs1800462 is classified as Drug response for Thiopurine S-methyltransferase deficiency (0 review stars, germline; last evaluated 1999-02-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 20d906ddf67a13ff · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.