PLB1, variants, traits, and what the research shows

PLB1 - what this gene does

Variants in PLB1 cluster around three trait themes visible in the current research data: rare disease, kidney-related conditions, and cancer. The specific biological role of this gene cannot be fully characterized from the available variant data alone, but the associations span both rare and common disease contexts.

Key takeaways

• Two variants linked to rare disease carry the highest signal magnitudes recorded for this gene
• Kidney associations appear across at least two separate variants, lending modest replication to that trait signal
• A cancer association has been noted for one variant, though full study details are limited
• Most entries here reflect GWAS (genome-wide association study - a study that scans many people's genomes for variants statistically associated with a trait) hits, which are population-level statistical correlations and do not establish cause
• 157 variants are on file for this gene; research summaries exist for a subset of 17

Notable variants

The two highest-magnitude entries for this gene are rs142897830 and rs146498076, both reaching magnitude 5.50 and both linked to rare disease. Kidney associations appear at magnitude 4.50 in rs11691383 and rs6710800, making the kidney signal the most replicated trait theme in this dataset. rs1828239 registers a cancer association at magnitude 4.50. rs11127159 and rs11903706 also reach magnitude 4.50 and have published research pages, though their detailed trait summaries are not available in the current dataset.

Trait associations

Rare disease is represented most strongly, led by rs142897830 and rs146498076 at the top of the magnitude scale. Kidney-related conditions appear in both rs11691383 and rs6710800, and the fact that this trait appears across more than one variant provides a modestly stronger foundation than a single-variant finding would. Cancer is linked to rs1828239 as a single-variant association; single-variant findings are considered preliminary until independently replicated in additional cohorts.

Evidence quality

The strongest signals here are the magnitude-5.50 rare disease variants rs142897830 and rs146498076, but effect sizes, sample sizes, and replication status are not available from the data provided. The kidney associations in rs11691383 and rs6710800 gain some credibility from appearing across two variants, though without cohort details the weight of that evidence cannot be quantified. The 157 total variants on file, with detailed summaries covering only 17, means the broader variant landscape for this gene remains incompletely characterized. All associations described here are consistent with GWAS methodology, which identifies statistical correlations at a population level and does not establish biological causation.

What this is NOT

These variants represent population-level statistical signals and do not predict any individual person's health outcomes. Nothing in this entry constitutes medical advice, a clinical diagnosis, or a recommendation to take any action.