STN1, variants, traits, and what the research shows

STN1 - what this gene does

This gene's catalogued variants span three broad trait themes - vision, rare disease, and neurological conditions - though no detailed per-variant summaries are yet available to characterize the precise biological role from this dataset alone.

Key takeaways

• The six highest-magnitude variants on file (all scored at 5.50) span vision, rare disease, and neurological trait categories.
• Two independent vision-linked variants appear among the top-tier signals.
• Rare disease associations are the most recurrent trait theme, with five variants flagged across two magnitude tiers.
• A neurological trait connection is represented by one top-tier variant.
• Detailed research summaries are not yet available; all associations should be treated as preliminary.

Notable variants

The strongest signals on file all carry a magnitude of 5.50. Vision-linked rs1057519583 and rs74157365 represent two independent top-tier associations with vision-related traits. Three rare-disease-flagged variants - rs146867381, rs201076579, and rs758380334 - share the same magnitude score. A neurological-trait signal is carried by rs753230146, also at magnitude 5.50. Within the magnitude-3.00 tier, rs1231904752 and rs1291259544 are additionally flagged for rare disease associations.

Trait associations

Three trait domains emerge from the variant catalog. Vision-related traits are linked to rs1057519583 and rs74157365 at the top magnitude tier. Rare disease associations appear across five independent variants - rs146867381, rs201076579, rs758380334, rs1231904752, and rs1291259544 - making rare disease the most recurrent category in this dataset; the same broad trait label appearing across multiple independent variants modestly strengthens the signal relative to a single catalogued hit. A neurological trait association is flagged by rs753230146, though it currently rests on a single top-tier variant.

Evidence quality

No detailed research summaries are available for any variant in this gene, so evidence quality cannot be formally assessed. Magnitude scores (5.50 for the top tier; 3.00 for the broader set of over 180 additional variants) reflect an internal ranking combining effect size and evidence strength, but without access to underlying study designs, sample sizes, replication status, or confirmation of whether these are GWAS hits - GWAS stands for genome-wide association study, a method that scans many people's genomes for variants statistically linked to a trait - or ClinVar entries (a public database of clinically reported genetic variants), all associations should be treated as catalogued signals awaiting further characterization. The most internally consistent pattern in this dataset is the repeated rare disease flag across five independent variants.

What this is NOT

These variants are population-level statistical signals from research catalogs, not deterministic predictors of any health outcome for any individual. This entry does not constitute medical advice, a diagnosis, or a recommendation of any kind.