POU6F2, variants, traits, and what the research shows

POU6F2 - what this gene does

POU6F2 is a gene whose variants, identified through GWAS (genome-wide association studies - large scans that look for genetic variants statistically linked to a trait across many individuals), point to associations with cancer, rare disease, respiratory conditions, and neurological conditions. The trait themes and individual variant records available in our dataset form the basis of this entry.

Key takeaways

• The top signals in this gene link it to cancer and rare disease.
• Two respiratory trait variants appear at the same evidence tier, suggesting a possible shared signal.
• A neurological trait association is also present, though represented by a single variant.
• Most associations lack published effect size data and should be treated as preliminary.
• 130 variants are on file; individual pages carry fuller detail for the most studied ones.

Notable variants

Three variants share the highest magnitude score on file: rs121918261 and rs2116574924 are both linked to cancer, while rs145961110 is linked to a rare disease. At the next evidence tier, rs3923295 and rs73695251 share a respiratory trait link, rs62443626 is associated with a neurological trait, and rs10246388 together with rs11767715 each have dedicated research pages with fuller detail.

Trait associations

Cancer is the most prominently represented trait, with rs121918261 and rs2116574924 appearing at the top of the evidence ranking. Rare disease appears across multiple variants spanning two evidence tiers: rs145961110 at the highest tier and rs140579551 and rs144939808 at a lower tier, which adds some breadth to that signal. Respiratory traits are linked to both rs3923295 and rs73695251 at the same evidence level, a pattern that may reflect a shared biological pathway, though the available data do not allow that interpretation to be confirmed. The neurological association via rs62443626 is currently a single-variant signal.

Evidence quality

The three top-magnitude variants, rs121918261, rs145961110, and rs2116574924, represent the strongest signals in our dataset, but odds ratios, beta coefficients, and sample sizes are not yet on file for most entries here. Two variants, rs10246388 and rs11767715, have dedicated research pages that likely contain richer evidence details. The broader pool of 130 variants, the majority sitting at lower magnitude without named trait labels, has not been individually characterized in this entry. All associations should be treated as early-stage pointers to the underlying literature until fuller replication data are available.

What this is NOT

The variant associations listed here are population-level statistical signals drawn from genetic studies, not deterministic predictors for any individual person. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation of any kind.