MAGI2, variants, traits, and what the research shows

MAGI2 - what this gene does

Variants in this gene are consistently associated with rare disease traits across the available data. Because no detailed research summaries are yet on file for individual variants, the specific conditions or biological mechanisms involved cannot be characterized further here.

Key takeaways

• At least 20 variants in this gene are flagged as rare-disease associations, all carrying a high-magnitude score of 5.50.
• A total of 293 variants are on file for this gene, reflecting broad genomic interest in its connection to rare-disease biology.
• All 20 highlighted variants share the highest magnitude score recorded in this gene's current dataset.
• Detailed trait specifics within the "rare disease" category will be added as per-variant research summaries become available.
• These are population-level statistical signals - not predictors of disease for any individual.

Notable variants

All highlighted variants carry a magnitude of 5.50 and are linked to rare disease. The top entries in the current dataset include rs1135402911, rs1135402912, rs1135402913, rs1294387014, and rs142555732. Further variants sharing the same magnitude and trait label include rs142565220, rs144078604, and rs145925666.

Trait associations

Every variant listed for this gene - including rs148086431, rs188293910, rs201057526, rs587780386, and rs765541438, as well as those named above - is categorized under rare disease. The convergence of 20 independent variant positions onto the same broad trait label strengthens the case that this gene's sequence is repeatedly implicated in rare-disease biology, even though the specific diagnoses within that umbrella cannot be detailed without per-variant research summaries.

Evidence quality

All 20 listed variants carry a magnitude of 5.50 - the highest score in this gene's current dataset - which may reflect ClinVar-catalogued pathogenic classifications, large-effect rare-variant findings, or another high-confidence annotation type; this cannot be confirmed without per-variant research summaries. A GWAS (genome-wide association study - a research approach that scans many people's genomes to identify variants statistically linked to a trait) origin cannot be ruled out either. Sample sizes, replication cohorts, and study designs remain unknown, and the full strength of these signals cannot be assessed until that supporting detail is added.

What this is NOT

These variants represent population-level statistical associations, not deterministic predictions about any individual person's health outcomes. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.