PRTFDC1, variants, traits, and what the research shows

PRTFDC1 - what this gene does

PRTFDC1 (phosphoribosyl transferase domain containing 1) is a human gene with variants that appear across genome-wide association studies (GWAS - large scans of many people's DNA to find genetic variants statistically linked to traits). The variants on file cluster around three trait themes: respiratory health, vision, and mental health.

Key takeaways

• High-magnitude variants near this gene have been statistically associated with respiratory traits in population-level genetic research
• At least one variant in this region carries a vision-related trait association at the same high magnitude
• A mental health signal is present but at a lower magnitude than the respiratory and vision signals
• All associations are population-level statistical findings, not predictions for any individual
• Specific effect sizes and replication data are not available in the current dataset

Notable variants

The highest-magnitude signals (4.50) include rs10828735, which is linked to a respiratory trait, and rs7080425, which is linked to a vision trait. rs12257709, rs143356584, and rs151165649 also reach magnitude 4.50 but carry no specific trait labels in the current data. A cluster of magnitude 3.00 variants (including rs111639291, rs145142862, rs146174646, and rs199983667) adds further breadth to the variant landscape, though no trait labels are assigned to them here. A mental health association is recorded for rs1033962 at magnitude 2.80.

Trait associations

Three trait themes are present in this dataset. The respiratory signal is carried by rs10828735 at the highest magnitude on file (4.50). The vision signal belongs to rs7080425, also at magnitude 4.50. The mental health association is recorded for rs1033962 at magnitude 2.80. Several lower-magnitude variants, including rs10828717, rs10828722, and rs10828723, lack specific trait labels in the current data, so their thematic contribution cannot be characterized here.

Evidence quality

Of the 48 variants on file for this gene, 17 have prior research summaries. The strongest signals reach magnitude 4.50, with rs10828735 and rs7080425 representing the top-ranked respiratory and vision associations respectively. Effect sizes, odds ratios, and sample sizes are not provided in the current dataset, which limits the ability to judge whether these are robust multi-cohort replicated findings or preliminary single-study signals. All associations should be treated as GWAS-level statistical observations pending further replication data.

What this is NOT

These variants are population-level statistical signals from genetic association studies, not deterministic predictors for any individual. Nothing on this page constitutes a diagnosis, prognosis, or recommendation of any kind.