POC1B, variants, traits, and what the research shows

POC1B - what this gene does

Variants in POC1B (also referred to in some databases as POC1 Centriolar Protein B) are associated with rare disease traits based on the research data available. The variants catalogued for this gene consistently fall under the rare disease trait category, though specific condition names are not available in the current dataset.

Key takeaways

• Over 230 variants have been catalogued for this gene, with all listed variants linked to rare disease
• All 20 highest-priority variants carry a magnitude score of 5.50 - a moderate-to-high signal in this dataset
• Specific disease names and effect sizes are not yet available for these variants
• The consistent rare disease signal across every catalogued variant suggests a focused disease research context
• Detailed clinical significance for individual variants has not yet been summarized in this resource

Notable variants

All 20 listed variants share an equal magnitude score of 5.50 and an identical rare disease trait classification. The highest-priority entries include rs1190722472, rs1219608074, rs1225701102, rs1378426700, rs141485649, rs144034808, rs1440795111, and rs1452525918. Because all carry equal magnitude and the same broad trait label, no single variant can be highlighted as more prominent than the others on current evidence alone.

Trait associations

Every variant with research metadata on file - including rs1882847374, rs1882924778, rs201071027, rs201760623, rs2120651305, rs2120831286, rs2540364734, and rs2540423602 - is classified under the rare disease trait category. The uniform association across all listed variants points to a concentrated rare disease research context, though without named conditions or quantified effect sizes the specific nature of each association cannot be characterized further at this time.

Evidence quality

A total of 236 variants are on file for this gene, with 21 noted as carrying prior research summaries; however, none of those summaries are currently available in this resource. All 20 listed variants carry a magnitude score of 5.50 under the rare disease trait category. Specific effect sizes (such as odds ratios or beta coefficients), sample sizes, cohort details, and replication status are absent from the current dataset. Until detailed per-variant summaries are published, all findings for this gene should be treated as preliminary and not yet replicated within this resource.

What this is NOT

These variants are population-level statistical signals - not deterministic predictors for any individual. This encyclopedia entry does not prescribe, diagnose, or advise any course of action.