PLCE1, variants, traits, and what the research shows

PLCE1 - what this gene does

Variants in PLCE1 cluster into two trait themes visible in the research record: kidney-related conditions and rare diseases. No detailed per-variant summaries are yet available for the specific entries listed here, so the discussion below is grounded entirely in trait labels, variant identifiers, and magnitude scores.

Key takeaways

• PLCE1 carries multiple high-magnitude variants linked to both kidney conditions and rare diseases
• Two of the top-ranked variants are specifically associated with kidney-related traits
• A larger cluster of top-ranked variants falls under the rare-disease category
• All 20 highlighted variants share a magnitude score of 5.50, indicating strong statistical signals in their source studies
• These are population-level associations and do not predict health outcomes for any individual

Notable variants

Among the 456 variants on file for this gene, 20 reach the highest recorded magnitude (5.50). Two are tagged for kidney traits: rs141639885 and rs199781223. A cluster of rare-disease-associated variants at the same magnitude level includes rs121912601, rs121912602, rs121912603, rs121912604, and rs121912605 - five variants sharing both a trait category and magnitude score, which may reflect a single study or closely related research context. Additional rare-disease variants at this tier include rs117545428, rs180753337, and rs192084195.

Trait associations

The top-magnitude variants divide between two research areas. Kidney-related traits are represented by rs141639885 and rs199781223. The rare-disease category accounts for the remaining 18 top-ranked variants, including rs117545428, rs1193230553, rs121912601, rs121912602, rs121912603, rs121912604, rs121912605, rs1437816828, rs1439063013, rs149064632, rs149614492, rs1589413498, rs180753337, rs192084195, rs192586920, rs199705167, rs200380935, and rs200419008. The breadth of rare-disease representation at the highest magnitude tier points to sustained research interest in this gene across that category.

Evidence quality

All 20 top-ranked variants carry a magnitude of 5.50, indicating that each was judged statistically notable in its source study - but because no per-variant summaries have been compiled yet, specific effect sizes (such as odds ratios - the ratio of the likelihood of a trait in people carrying a variant versus those who do not), sample sizes, or replication counts cannot be reported here. The full variant file spans 456 entries, suggesting a broad research footprint, but whether the underlying studies are independent replications or overlapping cohorts is not determinable from the current dataset alone. Detailed annotations for each variant will be added as summaries become available.

What this is NOT

These variants are population-level statistical signals - they describe patterns across large groups of people and are not deterministic predictors of any outcome for a given individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation of any kind.