POLR1HASP, variants, traits, and what the research shows

POLR1HASP - what this gene does

POLR1HASP has variants statistically associated with a range of trait themes - including immune function, cancer risk, neurological conditions, pharmacogenomics (how the body processes medicines), metabolic traits, and rare disease - based on the variant data currently on file.

Key takeaways

• Six variants at this locus are linked to immune-related traits, making immune function the most represented theme in the current dataset.
• Three variants carry cancer associations, and three more are linked to neurological conditions.
• One variant is associated with pharmacogenomics, and one each with metabolic traits and rare disease.
• All listed variants share a magnitude score of 4.50, so no single variant clearly outranks the others by this metric alone.
• Effect sizes and sample sizes are not yet on file for most variants; all associations should be treated as preliminary signals.

Notable variants

rs114577328 is the only variant with a dedicated published page and carries a pharmacogenomics trait association. Three variants are linked to cancer: rs2517713, rs2571400, and rs2860580. Neurological associations are carried by rs2523933, rs3893463, and rs6914699. A metabolic association is on file for rs3132722, and a rare-disease association for rs35835721.

Trait associations

The most frequently represented trait theme is immune function, with six variants - rs3823355, rs3893464, rs3910312, rs4313034, rs60131261, and rs6457109 - all carrying immune associations; the convergence of multiple variants at the same locus sharing this theme is notable. Cancer trait associations appear across rs2517713, rs2571400, and rs2860580. Neurological associations are represented by rs2523933, rs3893463, and rs6914699. A metabolic association is carried by rs3132722, a rare-disease association by rs35835721, and a pharmacogenomics association by rs114577328. Five additional variants - rs1611583, rs192543598, rs259926, rs4713281, and rs62388754 - are on file without detailed trait metadata.

Evidence quality

The dataset includes 256 variants in total, of which 19 carry prior research summaries and one - rs114577328 - has a published editorial page. Effect sizes (such as odds ratios or beta coefficients) and study sample sizes are not present in the data on file for the listed variants, which limits the ability to gauge absolute risk or confirm replication status. All 20 top-ranked variants share a magnitude score of 4.50, making it impossible to prioritise among them by that metric alone. Without full study-level metadata it cannot be confirmed whether these associations originate from single-cohort or multi-cohort GWAS - a genome-wide association study that scans large numbers of people's genomes for variants statistically associated with a trait - so all findings should be treated as preliminary pending further characterisation.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors, and the same variant may carry very different implications for different individuals. Nothing here constitutes medical advice, a diagnosis, or a recommendation of any kind.