ADAMTSL3, variants, traits, and what the research shows

ADAMTSL3 - what this gene does

Variants in ADAMTSL3 have been statistically associated with three trait themes: rare disease (conditions affecting fewer than 1 in 2,000 people), respiratory conditions, and metabolic traits. The data on file characterizes this gene through its variant associations rather than through a defined molecular function.

Key takeaways

• The strongest variant signal in this gene points to a rare disease trait.
• Separate variants connect this gene to respiratory and metabolic conditions.
• All signals are from GWAS - genome-wide association studies that scan many people's genomes for variants statistically linked to a trait - and represent population-level patterns, not individual predictions.
• 300 variants are on file for this gene, with 38 carrying prior research summaries.
• Magnitude scores reflect relative effect size and evidence strength; the top variant here scores 5.50 against a next tier of 4.50.

Notable variants

The highest-magnitude variant on file, rs200173381 (magnitude 5.50), is linked to a rare disease trait and leads the signal hierarchy by a clear margin over the next tier. Among the magnitude-4.50 variants, rs147726586 connects to respiratory traits and rs149747987 to metabolic traits. rs11856314 also sits at magnitude 4.50 with a dedicated research page. Three further magnitude-4.50 variants - rs142034143, rs7178962, and rs776314659 - are catalogued without specific trait labels at this time.

Trait associations

Three trait categories emerge from the variants on file:

• Rare disease: rs200173381 (magnitude 5.50) carries the strongest signal in the dataset and is the only variant currently labeled with a rare disease trait at this magnitude level.
• Respiratory: rs147726586 (magnitude 4.50) is associated with respiratory traits.
• Metabolic: rs149747987 (magnitude 4.50) is linked to metabolic traits.

An additional tier of magnitude-3.00 variants - including rs113618515, rs1206973064, and rs1234329408, among others - are catalogued without specific trait labels, leaving that portion of the association landscape uncharacterized at this time.

Evidence quality

300 variants are on file for this gene, of which 38 carry prior research summaries; the rest currently lack detailed annotations. The leading signal - rs200173381 at magnitude 5.50 for rare disease - is the best-evidenced finding in the dataset. The magnitude-4.50 tier includes trait-specific signals in respiratory (rs147726586) and metabolic (rs149747987) domains. All signals derive from GWAS, which identifies statistical associations at the population level. Individual study sample sizes, odds ratios, and replication status are not available in the current dataset for these variants, which limits the precision with which any individual association can be characterized.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual - carrying any of these variants does not mean a person will develop any associated condition. This content is informational only; we do not prescribe, diagnose, or advise on any course of action.