PDE10A, variants, traits, and what the research shows

PDE10A - what this gene does

Variants in PDE10A are cataloged in research databases primarily under rare disease associations, with additional signals in cancer, hormonal, immune, and metabolic trait categories.

Key takeaways

• The strongest signals in this gene, by evidence score, all point to rare disease associations.
• Additional variants are linked to cancer, hormonal, immune, and metabolic traits, indicating a broad research footprint.
• Most variants in this gene's catalog do not yet have published research summaries, so the full picture remains incomplete.
• Population-level variant data reflects statistical associations across groups, not individual predictions.

Notable variants

Eight variants reach the highest magnitude score (a measure of evidence strength used in this database) on file at 5.50, all linked to rare disease: rs140135628, rs1583275773, rs1785445977, rs370604056, rs754387675, rs875989839, rs875989840, and rs875989841. Six additional rare disease variants sit at magnitude 5.00, including rs1332740547 and rs778899140. Among the remaining cataloged variants, rs1033701 carries a hormonal trait signal, rs116313107 an immune signal, and rs12208309 a metabolic signal, each at magnitude 4.50.

Trait associations

Rare disease is the dominant theme across this gene's top-ranked variants: 14 of the 20 highest-magnitude entries on file carry a rare disease label, spanning two tiers at magnitudes 5.50 and 5.00. Two variants flag cancer associations at magnitude 4.50: rs13201817 and rs145172076. Single variants link the gene to hormonal (rs1033701), immune (rs116313107), and metabolic (rs12208309) trait categories. The breadth of trait categories suggests this gene appears across multiple lines of research, though detailed published summaries are not yet available for most variants in the catalog.

Evidence quality

The variant data on file provides magnitude scores and broad trait labels but does not include effect sizes (such as odds ratios or beta coefficients, which measure how strongly a variant shifts a trait across a population), sample sizes, or replication status for most entries. Three variants have published research pages: rs1033701, rs116313107, and rs12208309, though detailed content was not available at the time of this writing. The remaining 221 variants lack individual research summaries. Until detailed evidence characterizations are published, no firm conclusions should be drawn about effect sizes or clinical relevance from this gene's variant catalog.

What this is NOT

These variants represent population-level statistical associations across large groups of people, not deterministic predictors for any individual. This page does not prescribe, diagnose, or advise any action based on these signals.