LTBP1, variants, traits, and what the research shows

LTBP1 - what this gene does

Variants in LTBP1 - a gene with 251 catalogued entries across the research literature - cluster most prominently around rare disease phenotypes, with secondary signals in vision-related traits, a respiratory condition, and a cancer association.

Key takeaways

• Seven variants in this gene are linked to rare disease phenotypes, carrying the highest magnitude scores in the dataset
• Three variants associate this gene with vision-related traits
• A respiratory condition and a cancer trait each have one recorded variant at this locus
• Detailed study metadata - effect sizes, sample sizes, replication status - is not available for most variants here
• All signals are population-level statistical associations, not individual health predictions

Notable variants

The four highest-scoring entries - rs148622840, rs2149767574, rs2150084747, and rs2150785723, each at magnitude 5.50 - are all tagged with rare disease associations. Vision-related variants rs115781177 (which has a dedicated published research entry), rs11903480, and rs542118912 each sit at magnitude 4.50. rs219155 represents the sole respiratory trait entry at magnitude 4.50, and rs34071846 the sole cancer entry at that level.

Trait associations

Rare disease phenotypes account for the dominant high-magnitude signal, with seven variants spanning magnitudes 5.00-5.50: rs148622840, rs2149767574, rs2150084747, and rs2150785723 at the 5.50 tier, plus rs1441358067, rs2150575155, and rs2482951128 at 5.00. Vision is the next most represented theme, with rs115781177, rs11903480, and rs542118912 all at magnitude 4.50 - the recurrence of three independent vision variants at the same locus is a signal worth tracking in future research. The respiratory association (rs219155) and cancer association (rs34071846) each appear once at magnitude 4.50, representing narrower but still notable threads in the trait landscape.

Evidence quality

Of 251 catalogued variants, 24 carry associated research summaries, and one - rs115781177 - has a dedicated published page. Magnitude scores in the 5.00-5.50 range mark the strongest entries by the ranking system used here, but this dataset does not include GWAS (genome-wide association study - a study that scans thousands of people's genomes for variants statistically associated with a trait) effect sizes, odds ratios, sample sizes, or replication records for most variants. Without that context it is not possible to confirm whether findings derive from single cohorts or have been independently validated across multiple datasets. All signals should be treated as preliminary unless verified against primary literature.

What this is NOT

These variants represent population-level statistical associations from aggregate research data, not deterministic predictors of any individual's health or disease risk. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to seek or avoid any clinical action.