PTPRD, variants, traits, and what the research shows

PTPRD - what this gene does

Variants catalogued across PTPRD (Protein Tyrosine Phosphatase Receptor Type D) appear in genome-wide association studies - GWAS, studies that scan many people's genomes for variants statistically linked to a trait - touching rare disease, liver conditions, respiratory traits, neurological conditions, and cancer. With 355 variants on file, 71 of which carry prior research summaries, the associations span multiple organ systems.

Key takeaways

• The strongest signal on file links this gene to a rare disease trait, standing apart from the rest of the dataset by magnitude.
• Liver associations appear across two separate variants, providing a modestly replicated signal within this dataset.
• Cancer, respiratory, and neurological traits are also represented among the listed variants.
• 355 variants are catalogued in this gene, 71 with prior research summaries.
• All findings are population-level statistics - not predictions for any individual.

Notable variants

The highest-magnitude variant on file is rs114777847 (magnitude 5.50), linked to a rare disease trait - the strongest signal among those catalogued here. Liver associations appear at two independent variants, rs10756038 and rs12376680, both at magnitude 4.50. Three cancer-linked variants - rs140347028, rs141864270, and rs142495007 - cluster at the same magnitude tier. A respiratory signal is carried by rs118106262, and a neurological association by rs140120433.

Trait associations

Across the 355 variants catalogued in this gene, the research literature touches rare disease (the trait linked to the highest-magnitude variant, rs114777847), liver conditions (rs10756038, rs12376680), cancer (rs140347028, rs141864270, rs142495007), respiratory traits (rs118106262), and neurological conditions (rs140120433). The recurrence of liver associations across two distinct variants at magnitude 4.50 provides a modestly replicated signal within this dataset, though independent replication across external cohorts is needed to strengthen confidence further.

Evidence quality

The strongest variant on file, rs114777847, carries a magnitude score of 5.50 for a rare disease trait; the remaining highlighted variants sit at 4.50. Of the 355 total variants catalogued here, 71 carry prior research summaries. Per-variant effect sizes, odds ratios, cohort sizes, and replication status are not available in this summary and cannot be characterised further. Associations in a gene-level GWAS catalogue typically reflect signals discovered in large population studies rather than validated causal mechanisms, and single-cohort or preliminary findings should be treated with appropriate caution until independently replicated.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual - a person carrying any of these variants may never develop the associated trait. This content is encyclopedic and does not constitute medical advice, diagnosis, or treatment recommendations.