PCAT1, variants, traits, and what the research shows

PCAT1 - what this gene does

Variants catalogued at the PCAT1 locus are predominantly linked to cancer risk in genome-wide association studies (GWAS - studies that scan large populations for genetic variants statistically associated with a trait), making cancer the sole documented trait theme across the 89 variants currently on file for this gene.

Key takeaways

• Multiple high-magnitude variants in this gene are statistically linked to cancer risk.
• The strongest signals (magnitude 4.50) include seven independently catalogued cancer-associated variants.
• Cancer associations appear across three distinct magnitude levels, suggesting layered genetic signals at this locus rather than a single isolated hit.
• 89 total variants are on file; 20 carry published research annotations - full individual summaries are still pending.
• These are population-level statistical associations, not individual disease predictions.

Notable variants

The highest-magnitude entries on file (magnitude 4.50) include seven variants with cancer trait annotations: rs10113175, rs144042722, rs146851087, rs7011138, rs72725854, rs752737912, and rs77541621. Two additional magnitude-4.50 entries - rs143225269 and rs376194956 - are catalogued without trait annotations at this time. Among the lower-magnitude tier, rs10086908 and rs10441523 carry cancer annotations at magnitude 2.20, while rs1027038 and rs1027041 are on file at the same tier pending trait detail.

Trait associations

Cancer is the only documented trait across the annotated variants of this gene. The association recurs across all three magnitude tiers: at the highest level (4.50), cancer is annotated on rs10113175, rs144042722, rs146851087, rs7011138, rs72725854, rs752737912, and rs77541621; at magnitude 2.80, the same trait appears on rs17449442, rs180753027, rs28615829, rs72725817, rs75777376, and rs76903343; and at magnitude 2.20, on rs10086908 and rs10441523. The recurrence of the cancer trait across multiple independent variants at three distinct magnitude levels is consistent with a meaningful locus-level signal, though full effect sizes and cohort details are not yet available for individual entries.

Evidence quality

Eighty-nine variants are currently catalogued at this locus, with 20 identified as carrying prior research annotations; detailed SNP-level editorial summaries are pending for all published-page entries, which limits what can be stated about individual odds ratios, beta coefficients, or sample sizes. Cancer-trait associations span three magnitude tiers (4.50, 2.80, and 2.20), suggesting layered GWAS signals rather than a single isolated finding - a pattern generally considered more robust than a single hit. Replication status and cohort composition are not yet surfaced in the available input; all associations should be treated as preliminary until full variant summaries are published.

What this is NOT

These variants represent population-level statistical associations from large-scale genetic studies and are not deterministic predictors of cancer or any other condition for any individual person. This content is informational only - we do not prescribe, diagnose, or advise on any clinical or personal action.