COL11A1, variants, traits, and what the research shows

COL11A1: what this gene does

COL11A1 is a human gene whose catalogued variants are linked to two trait themes in genomic research databases: rare disease and hearing.

Key takeaways

• Variants in this gene are predominantly linked to rare disease categories in research databases
• At least one top-ranked variant is associated with hearing traits
• All top-listed variants carry a high magnitude score (5.50), indicating strong prior research attention in the underlying database
• More than 1,200 variants are catalogued for this gene, reflecting substantial research coverage
• These are population-level statistical signals, not deterministic predictors for any individual

Notable variants

The top 20 variants on file for this gene all carry a magnitude score of 5.50. Rare-disease-linked examples at this tier include rs121912943, rs121912944, rs114630202, rs1001275411, and rs1057517989. The sole hearing-associated entry in the top-ranked group is rs1040168773.

Trait associations

Rare disease is the dominant trait theme across the catalogued variants, appearing in 19 of the top 20 listed entries, including rs121912943, rs121912944, rs1043927378, rs1057524237, and rs1166096502, among others. Hearing is a secondary theme, represented by rs1040168773 in the top-ranked set. The presence of both trait categories across multiple catalogued variants suggests at least two distinct lines of research are attached to this gene.

Evidence quality

All 20 top-ranked variants carry a magnitude score of 5.50, reflecting high evidence strength in the database ranking system. Across the full gene, 1,267 variants are on file, of which 16 have prior research summaries; however, none of those summaries are currently available in this dataset, so trait attributions here rest on variant-level metadata rather than full study details. No sample sizes, odds ratios, or cohort replication data are available from the current input, so it is not possible to assess whether these signals come from single-cohort findings or replicated multi-cohort studies. Individual variant pages linked above may provide more detail as research summaries are added.

What this is NOT

These variants represent population-level statistical associations and are not deterministic predictors of disease or hearing outcomes for any individual. This entry does not prescribe, diagnose, or advise any course of action.