ANKS1B, variants, traits, and what the research shows

ANKS1B - what this gene does

ANKS1B (ankyrin repeat and sterile alpha motif domain-containing protein 1B) is a gene whose catalogued variants span five trait themes in genome-wide association studies (GWAS - scans of large populations that link genetic variants to traits statistically): rare disease, cardiovascular, pharmacogenomics, metabolic, and neurological.

Key takeaways

• The two highest-ranked variants in this gene are both linked to rare diseases, standing above a broad cluster of other signals.
• Cardiovascular and pharmacogenomic associations also appear among the top-magnitude variants, reflecting wide-ranging research interest.
• Neurological and metabolic trait signals round out the five main themes catalogued for this gene.
• 144 variants are on file in total, with 24 carrying prior research summaries.
• All associations are population-level statistics from genome-wide studies - not personal health predictions.

Notable variants

The two standout variants by evidence magnitude are rs200534823 (magnitude 5.50, rare disease) and rs1229498461 (magnitude 5.00, rare disease), both rare disease associations. A secondary cluster at magnitude 4.50 spans multiple domains: rs11110004 carries a cardiovascular signal; rs113304626 and rs7968606 are catalogued under pharmacogenomics; rs12580615 and rs2201161 add further rare disease associations; rs2373011 connects to metabolic traits; and rs61940242 to neurological traits.

Trait associations

Rare disease is the most recurrent theme, appearing across at least four top-tier variants: rs200534823, rs1229498461, rs12580615, and rs2201161. The presence of multiple rare disease signals at high magnitude is the single most consistent pattern in the current dataset. Cardiovascular associations are represented by rs11110004. Pharmacogenomic signals - variants potentially relevant to how individuals process or respond to medications - appear at rs113304626 and rs7968606. Metabolic and neurological themes each appear in a single top-tier variant, rs2373011 and rs61940242 respectively; the broader 144-variant catalogue likely contains additional associations across all five themes.

Evidence quality

The strongest signals reach magnitudes of 5.50 and 5.00, both in the rare disease category (rs200534823 and rs1229498461). A secondary tier at magnitude 4.50 covers cardiovascular, pharmacogenomic, metabolic, and neurological associations. Of 144 total catalogued variants, 24 carry prior research summaries; the remaining variants lack detailed editorial context at this time. Detailed effect sizes (such as odds ratios or beta coefficients), sample sizes, and cohort replication status are not available from the current data, limiting further characterization of individual signals. All associations here derive from GWAS-level research and have not been individually graded for single-cohort versus multi-cohort replication in this summary.

What this is NOT

These variants are population-level statistical signals from genome-wide studies, not deterministic predictors of any disease or condition for any individual. Nothing on this page constitutes medical advice, a clinical diagnosis, or a recommendation to take or avoid any action.