INSR, variants, traits, and what the research shows

INSR - what this gene does

Variants in this gene cluster around two trait themes - rare disease and metabolic conditions - based on the current variant catalog.

Key takeaways

• All top-ranked variants carry a magnitude score of 5.50, placing them in the highest-priority tier of this catalog.
• Rare disease is the dominant trait theme, appearing across 18 of the top 20 variants on file.
• Two variants are linked to metabolic conditions, suggesting this gene appears in both rare and common disease research.
• 503 total variants are cataloged; 38 carry prior research summaries pending integration.
• These are population-level statistical associations, not predictions for any individual.

Notable variants

Among the top entries on file, rs111502197, rs121913135, rs121913138, rs121913140, and rs121913145 all carry magnitude 5.50 and are associated with rare disease trait themes. Two variants stand apart by category: rs121913139 and rs121913150 share the same high magnitude score but are linked to metabolic rather than rare disease traits.

Trait associations

The variant catalog points to two broad areas. Rare disease is the dominant theme, represented by the majority of top-ranked signals including rs111502197, rs111993466, rs121913135, and rs121913136, among others. The metabolic category is represented by rs121913139 and rs121913150. Specific condition names are not yet available in the current data; detailed annotations will appear as the 38 pending research summaries are integrated.

Evidence quality

All 20 top-listed variants share a magnitude of 5.50, placing them in the highest-priority tier of this catalog. Prior research summaries - which would supply effect sizes such as odds ratios (measures of how much a variant shifts the statistical odds of a trait) or beta coefficients, sample sizes, and replication status - have not yet been integrated for any variant shown here. With 503 total variants on file and 38 carrying prior summaries awaiting integration, the full evidence picture will expand as those summaries are processed. Until then, these should be treated as high-priority signals pending detailed annotation.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual; the same variant can appear in people with and without any given condition. Nothing here constitutes a diagnosis, prescription, or medical recommendation.