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rs1801265 DPYD

Genotype GG is associated with decreased metabolism of fluorouracil in people with Neoplasms as compared to genotypes AA + AG.

Imported from PharmGKB · not individually reviewed Drug response · dbSNP

What is rs1801265?

rs1801265 is a single-nucleotide polymorphism (SNP) in the DPYD gene (Dihydropyrimidine dehydrogenase). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as GG. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1801265 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
GGtypicalGenotype GG is associated with decreased metabolism of fluorouracil in people with Neoplasms as compared to genotypes AA + AG.95%
AAtypicalGenotype AA is associated with increased response to fluorouracil in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.95%

Which drugs have annotations for rs1801265?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
Genotype GG is associated with decreased metabolism of fluorouracil in people with Neoplasms as compared to genotypes AA + AG., Genotype AA is associated with increased response to fluorouracil in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.

Is rs1801265 on 23andMe and AncestryDNA chips?

Chip coverage is not recorded for this variant. Orviva reports it when a raw-data file contains it directly or via a well-correlated proxy SNP, and says so when it does not.

Sources

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.