ASTN2, variants, traits, and what the research shows

ASTN2 - what this gene does

Variants catalogued for ASTN2 cluster around two trait themes - musculoskeletal conditions and rare diseases - based on 687 catalogued variants, though no detailed per-variant summaries are yet available for this gene.

Key takeaways

• ASTN2 variants are associated with both musculoskeletal traits and rare disease categories.
• 687 variants are catalogued for this gene, with top-listed variants sharing an equal evidence-weighted magnitude score of 5.50.
• Multiple independent variants point to the same two trait themes, which adds weight to those associations.
• Detailed per-variant summaries are not yet available, so specific condition names cannot be reported here.
• These are statistical associations at the population level - not predictions for any individual.

Notable variants

Among the top-listed variants, rs111033570, rs116058338, rs117599771, and rs121434447 are each flagged for musculoskeletal traits, all carrying an equal magnitude score of 5.50. On the rare disease side, rs1180939705, rs1184553729, rs1221660946, and rs1249127983 share the same magnitude tier. Because all listed variants sit at the same score, no single variant stands out above the others based on currently available data.

Trait associations

Musculoskeletal associations appear across rs111033570, rs116058338, rs117599771, rs121434447, rs138699534, rs141953092, rs144172952, and rs145907585, among others in the full set of 687 variants. Rare disease associations appear across rs1180939705, rs1184553729, rs1221660946, rs1228615020, rs142715198, and rs142781513, among others. The recurrence of both trait themes across multiple independent variants adds weight to these associations, though without detailed summaries the specific conditions involved cannot be described.

Evidence quality

The 687 variants catalogued for this gene include 70 with prior research summaries, though none of those summaries have been provided for this entry. All 20 top-listed variants carry an identical magnitude score of 5.50, which reflects their evidence-weighted ranking, but no effect size metrics such as odds ratios or beta coefficients, sample sizes, or replication status are available in the current input. Without that detail, it is not possible to confirm whether these findings derive from large multi-cohort GWAS - genome-wide association studies that scan many people's genomes for variants statistically linked to a trait - or from smaller, preliminary analyses. Readers should treat these trait-category labels as starting points for further investigation rather than established clinical findings.

What this is NOT

These variants are population-level statistical signals from group studies; they are not deterministic predictors of any outcome for any individual. Nothing here constitutes medical advice, a diagnosis, or a recommendation of any kind.