AMPD3, variants, traits, and what the research shows

AMPD3 - what this gene does

Based on the variants catalogued here, this gene shows its strongest research associations with rare disease phenotypes (conditions that affect a small proportion of the population and are often genetically driven), with a secondary signal in respiratory traits, across more than 200 variants on file.

Key takeaways

• Three variants share the highest recorded signal strength in this gene, all linked to rare disease
• A respiratory trait association adds a second research dimension
• Over 200 variants are catalogued, reflecting active and ongoing research interest
• These are population-level statistical signals, not predictors for any individual
• Rare disease associations span both the highest-magnitude and moderate-magnitude variants, suggesting broad coverage across the gene

Notable variants

The three highest-magnitude entries are rs150321693, rs201980416, and rs3741040, each reaching magnitude 5.50 and each linked to rare disease. Close behind, rs2539574847 at magnitude 5.00 also falls in the rare disease category. Among variants with a distinct trait focus, rs2923120 at magnitude 4.50 is linked to respiratory traits. rs10840421 also reaches magnitude 4.50 and has a dedicated research page.

Trait associations

Rare disease is the dominant trait theme across this gene, appearing in the top-magnitude variants - rs150321693, rs201980416, rs3741040, rs2539574847 - and continuing through numerous magnitude-3.00 entries including rs1007093143, rs114908387, rs117002871, rs1207427717, and rs1336172653. Respiratory traits surface as a secondary signal through rs2923120. The recurrence of rare disease associations across multiple independent variants at different signal tiers strengthens this as the gene's primary research theme.

Evidence quality

This gene has 210 variants on file, 20 of which carry prior research summaries - an active but still-developing evidence base. The three top-tier signals, rs150321693, rs201980416, and rs3741040 at magnitude 5.50, represent the strongest individual findings currently catalogued. The respiratory signal at rs2923120 (magnitude 4.50) adds a second trait domain but is currently represented by a single catalogued variant in that category, making it a preliminary rather than replicated finding. A large proportion of the 210 variants on file lack detailed trait metadata in the current dataset; the overall evidence picture should be treated as subject to revision as coverage expands.

What this is NOT

These variants represent population-level statistical associations, not deterministic predictors of disease or health outcomes for any individual. This page does not prescribe, diagnose, or advise any course of action.