PRKN, variants, traits, and what the research shows

PRKN - what this gene does

PRKN is a human gene with 361 catalogued variants on file, whose trait associations span neurological conditions, cancer, and rare diseases. No per-variant research summaries are currently available, so the characterisation below is based on the trait-level groupings from the variant catalogue.

Key takeaways

• The majority of the highest-magnitude variants linked to this gene are associated with neurological conditions
• Two top-tier variants carry cancer-related associations, and four are linked to rare diseases
• All top-tier variants share a magnitude score of 5.50, indicating comparable effect-size estimates across this tier
• 361 total variants are on file, reflecting substantial research interest in this gene
• These are population-level statistical signals, not deterministic predictors for any individual

Notable variants

Among the 20 highest-magnitude variants currently catalogued, the neurological-associated entries include rs1226997153, rs137853055, rs137853057, rs137853058, and rs140590552, each carrying a magnitude of 5.50. Two variants, rs137853054 and rs149953814, are linked to cancer traits at the same magnitude. Four variants carry rare disease associations: rs146288080, rs1562485799, rs1790398941, and rs182893847, all also at magnitude 5.50.

Trait associations

Across the 20 highest-magnitude variants, neurological conditions appear most frequently, accounting for 14 of the 20 entries. That group includes rs1226997153, rs137853055, rs137853057, rs137853058, rs140590552, rs141366047, rs143477190, rs147121590, rs148990138, rs150562946, rs1562519380, rs199657839, rs200157467, and rs201039350. Cancer-linked associations are represented by rs137853054 and rs149953814. Rare disease associations appear across rs146288080, rs1562485799, rs1790398941, and rs182893847. The concentration of neurological entries across 14 separate variants strengthens the case that this gene is relevant to neurological research, though independent replication would be needed to confirm any individual signal.

Evidence quality

All 20 variants listed here share a magnitude score of 5.50, and 361 total variants are on file. No per-variant research summaries are available at this time, meaning that effect sizes, sample sizes, and replication status for individual variants are not yet surfaced here. Trait labels reflect catalogue-level groupings rather than independently verified clinical or functional findings. These entries should be treated as preliminary pointers toward areas of research interest rather than established associations.

What this is NOT

The variants described here are population-level statistical signals, not deterministic predictors for any individual. Nothing on this page constitutes a diagnosis, prescription, or clinical recommendation.