PDE1C, variants, traits, and what the research shows

PDE1C - what this gene does

Variants across the PDE1C locus are statistically associated - through genome-wide association studies (GWAS - studies that scan hundreds of thousands of genetic positions across large groups of people to find variants statistically linked to a trait) - with traits spanning hearing, neurological function, metabolic conditions, cancer, and rare diseases. The strongest signals observed in the 156 variants on file center on hearing.

Key takeaways

• The strongest variants in this gene are all linked to hearing traits.
• Neurological-trait associations appear across multiple independent variants, adding weight to the signal.
• Cancer and metabolic associations are also part of this gene's profile, though backed by fewer variants.
• Rare-disease signals have been catalogued here at lower evidence tiers.
• All associations are population-level statistics - not predictors for any individual.

Notable variants

The three highest-ranked variants - rs2534865414, rs368406121, and rs775633137 - are each associated with hearing traits and sit at the top of the evidence-strength tier. Among neurological-trait associations, rs10236197, rs215600, and rs9771228 stand out at the next tier, suggesting a recurring signal across independent variants in that trait category. The metabolic signal at rs11975235 and cancer-linked rs181885701 round out the primary trait themes across the top-ranked variants.

Trait associations

Hearing traits dominate the highest-confidence tier, with rs2534865414, rs368406121, and rs775633137 all pointing to this domain. Neurological traits appear across three separate variants - rs10236197, rs215600, and rs9771228 - a pattern of multi-variant association within a single category that lends additional weight to the neurological theme. Cancer associations are carried by rs181885701 and rs186216273. A metabolic-condition link is represented by rs11975235. Rare-disease signals appear at rs79887363, rs1047347698, and rs1190406152, though these sit at a lower evidence tier. Several additional variants - including rs2072431, rs215738, rs553147286, and rs571008725 - are on file without published trait labels, meaning the full scope of associations here remains to be characterized.

Evidence quality

Of the 156 variants catalogued at this locus, 22 carry prior research summaries. The hearing signal is the best-evidenced theme, with three independent variants reaching the highest evidence tier - a degree of convergence that strengthens the association. Neurological associations are supported by three variants at the next tier, providing a measure of internal replication. The metabolic and cancer signals each rest on one or two variants; without effect-size data - such as odds ratios (a measure of how much more or less likely a trait is among people who carry a given variant) or beta coefficients - available in the current summaries, these should be treated as preliminary leads rather than established associations. Several lower-tier variants lack trait labels entirely, so this profile is incomplete.

What this is NOT

All variants described here are population-level statistical associations from GWAS and related study designs - they reflect shifts in average trait likelihood across large cohorts, not certainties for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.