DPYD, variants, traits, and what the research shows

DPYD - what this gene does

DPYD, a human gene with 407 variants currently on file, shows a striking concentration at the top of its magnitude rankings: every one of the 20 highest-scored variants is associated with rare disease - a broad category covering conditions that affect a small proportion of the population.

Key takeaways

• All 20 of the highest-magnitude variants on file are linked to rare disease traits.
• The top-ranked variants share a magnitude score of 5.50, reflecting strong prior evidence weighting in the source catalog.
• A total of 407 variants have been catalogued for this gene, suggesting it is extensively studied in genetic research.
• Without individual study summaries, specific conditions linked to each variant cannot be named in this entry.
• These variants are population-level statistical signals - they do not predict outcomes for any individual.

Notable variants

All 20 top-ranked variants share the same magnitude score (5.50) and trait category (rare disease), so the signal is collective rather than driven by a single outlier. The best-evidenced include rs3918289, rs72547602, rs72549307, rs72549309, rs45589337, rs367619008, and rs183475941 - each catalogued as a rare disease association at the highest magnitude tier available in this dataset. The remaining 13 variants share the same profile and are accessible at their individual SNP pages.

Trait associations

Rare disease is the sole trait category represented among the top 20 variants on file. Without individual SNP summaries, the specific conditions linked to each variant cannot be identified here. Beyond those highlighted above, variants including rs199777072, rs200562975, rs202011255, rs1057517055, and rs112766203 all carry the same rare disease association, reinforcing that the concentration is not an artifact of a few isolated entries.

Evidence quality

This gene has 407 variants on file, of which 26 carry prior research summaries - none of which are included in the current dataset. Each of the 20 variants presented here carries a magnitude score of 5.50, reflecting strong prior evidence weighting in the catalog, but no individual study metadata (sample sizes, replication cohorts, effect sizes, or odds ratios) is available for any variant in this batch. The strength of evidence for specific trait links therefore cannot be independently verified from this entry alone. Readers seeking clinical-grade evidence should consult primary research sources directly.

What this is NOT

The variants listed here are population-level statistical associations from genetic research databases, not deterministic predictors of disease or health outcomes for any individual. This page does not prescribe, diagnose, or advise on any course of action.