STAG1, variants, traits, and what the research shows

STAG1 - what this gene does

Variants catalogued in STAG1 are consistently associated with rare disease phenotypes (rare diseases are conditions that affect fewer than 1 in 2,000 people in a population). Without additional trait detail in the current dataset, the specific conditions involved cannot be characterized further from this source alone.

Key takeaways

• All 19 research-flagged variants in this gene carry a rare disease association
• 322 variants are catalogued in total, with 19 carrying research-level annotations
• Every flagged variant carries a consistent magnitude score of 5.50, pointing to a recurring signal in rare disease biology
• Specific diagnoses or phenotypes have not yet been detailed in the available data
• These are population-level statistical signals, not deterministic outcomes for any individual

Notable variants

The highest-magnitude variants on file - each scored at magnitude 5.50 - all carry a rare disease trait label. rs1026553102, rs1193212374, rs1268657053, rs1471479119, and rs147882530 are among the top-listed signals, alongside rs1553743217, rs199902670, and rs201846240. No additional trait-level detail is available in the current dataset for any of these variants.

Trait associations

Every research-flagged variant in this gene maps to the rare disease category. The convergence across multiple independent variants - including rs1026553102, rs370146152, rs748993808, and rs757065909 - strengthens the overall association with rare disease biology, even where specific diagnostic labels are not yet annotated in the dataset. The consistent trait theme across all 19 flagged entries, including rs1553801881, rs1576656734, rs1937166346, rs1939944359, and rs2107814357, suggests this gene is a recurring point of interest in rare disease genetics.

Evidence quality

All 19 research-flagged variants share a uniform magnitude score of 5.50, indicating consistent evidence weighting across the dataset. However, no prior SNP-level summaries are available for this gene, leaving underlying study details - including sample sizes, replication cohorts, and specific phenotypes - uncharacterized in this source. The breadth of flagged variants (19 out of 322 catalogued) is notable, but the absence of granular metadata means these findings should be treated as preliminary signals awaiting further annotation rather than fully established associations.

What this is NOT

These variants represent population-level statistical associations and are not deterministic predictors of any disease or outcome for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.