ELMO1, variants, traits, and what the research shows

ELMO1 - what this gene does

Variants catalogued for ELMO1 cluster around three main trait themes visible in the research data: cancer, kidney-related conditions, and rare disease.

Key takeaways

• ELMO1 variants are linked to cancer, kidney conditions, and rare disease in published research
• Two independent cancer-linked variants sit at the highest evidence tier catalogued for this gene
• A kidney disease association and a rare disease association are also among the top-tier findings
• Over 100 variants are on file, reflecting an active but incompletely documented research landscape
• Population-level associations do not predict individual health outcomes

Notable variants

The highest-magnitude variants (magnitude 4.50) include cancer-associated rs143254906 and rs4723619, kidney-associated rs741301, and rare-disease-associated rs111796602. Additional magnitude 4.50 variants - rs10224438, rs12669698, rs2723986, and rs4720237 - share this top evidence tier without specific trait labels in the current dataset.

Trait associations

Cancer is the most represented trait theme among top-magnitude variants, with two independent signals at magnitude 4.50: rs143254906 and rs4723619. The presence of two separate variants pointing to cancer within the same gene modestly strengthens this association relative to a single signal. Kidney-related conditions are flagged for rs741301, also at magnitude 4.50. Rare disease is the annotated trait for rs111796602 at the same tier. A cluster of lower-magnitude variants (magnitude 3.00) - including rs1043529201, rs1174488092, and rs1258087833 among others - round out the dataset, the majority without specific trait labels in the current data.

Evidence quality

The top-tier variants carry a magnitude score of 4.50, indicating stronger evidence weighting in the source data, while a second tier registers at magnitude 3.00. Prior research summaries were listed for rs10224438 and rs111796602 but their content was not available for this entry, limiting the depth of clinical or functional detail that can be provided here. No sample sizes, odds ratios, beta coefficients, or replication statistics are present in the current data, so relative risk and study scope cannot be characterized. With 112 variants catalogued and 18 carrying prior summaries, the research landscape for this gene is active but remains incompletely documented at this time.

What this is NOT

These variants represent population-level statistical associations and do not predict outcomes for any individual. Nothing in this entry constitutes medical advice, diagnosis, or a recommendation to take any action.