CSGALNACT1, variants, traits, and what the research shows

CSGALNACT1 - what this gene does

Variants catalogued for CSGALNACT1 point primarily to rare disease trait categories, with additional associations spanning neurological, cancer, and respiratory research. The trait picture is broad, and most signals are based on genetic association data (GWAS - a study design that scans many thousands of people's genomes to find variants statistically linked to a trait) rather than established molecular mechanisms.

Key takeaways

• The highest-magnitude variants in this gene are linked to rare disease categories
• Additional variants are associated with neurological conditions, certain cancers, and respiratory traits
• Sixteen of the 226 catalogued variants have prior published research summaries
• These are population-level statistical associations, not personal health predictions
• Most signals in this gene lack detailed cohort replication data and should be treated as preliminary

Notable variants

Among the 226 variants on file, the strongest signals are a cluster of rare disease entries all reaching magnitude 5.50: rs1034099077, rs1244948993, rs1356871588, rs143971943, rs144295336, and rs146273214. Three further rare disease variants, rs201151136, rs2054868908, and rs2538803620, sit at magnitude 5.00. At magnitude 4.50, rs10087146 is linked to neurological traits, rs117862405 to cancer, and rs138400467 to respiratory conditions. rs11774660 also carries magnitude 4.50 with published research, though specific trait detail is not available in the current data.

Trait associations

Rare disease is the dominant theme across this gene's catalog, with 13 of the top-ranked variants assigned to that category, including rs1034099077, rs2538832890, rs36026721, rs746391651, rs746934517, and rs750290204. Neurological associations appear through rs10087146. Cancer research connects to this gene via rs117862405. Respiratory traits are linked through rs138400467. The breadth of domains touched by a single gene's variant catalog is notable, though each non-rare-disease domain currently rests on a single variant signal.

Evidence quality

The rare disease variants at magnitude 5.50 represent the highest-confidence signals in this gene's catalog, and the volume of them (13 variants at this tier) is a notable feature of the data. However, no sample sizes, odds ratios, or beta coefficients are available in the current input for any variant, which means it is not possible to characterize effect sizes or replication status with precision. Of the 226 total variants catalogued, only 16 have prior research summaries, so the majority of the catalog reflects initial association data without deeper editorial review. The neurological, cancer, and respiratory signals each rest on a single variant, which limits confidence in those specific cross-domain claims. All findings should be treated as preliminary until corroborated in independent cohorts.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This content does not constitute medical advice, a diagnosis, or a recommendation to take any action.