ADAMTSL1, variants, traits, and what the research shows

ADAMTSL1 - what this gene does

ADAMTSL1 is a human gene whose catalogued variants connect it to several trait domains: rare disease, cardiovascular conditions, liver traits, vision, immune function, and kidney phenotypes. The entries below reflect population-level associations identified through genetic research; no functional mechanism can be inferred from the variant list alone.

Key takeaways

• The highest-priority variant in this gene is linked to rare disease and carries the largest magnitude score (5.50) of any variant on file.
• Multiple magnitude 4.50 variants span cardiovascular, liver, vision, immune, and kidney traits.
• Immune-related associations appear across at least three distinct variants, making it the most numerically represented trait category among top-tier entries.
• 224 variants are catalogued in this gene; this summary focuses on the 20 highest-priority entries.
• All associations are statistical signals from population studies, not individual-level predictions.

Notable variants

The variant with the strongest signal on file is rs78291060 (magnitude 5.50), linked to rare disease. A cluster of magnitude 4.50 variants follows: rs10733356 and rs2210327 are both associated with cardiovascular traits; rs10963680 with liver traits; rs116910509 with vision; and rs548186332 with kidney phenotypes. Three immune-associated magnitude 4.50 variants - rs12349943, rs3885291, and rs893419645 - cluster at the same priority tier, a pattern that can indicate a more robust signal when variants are independent.

Trait associations

Across the top 20 variants catalogued here, the gene shows associations with: rare disease - represented by rs78291060 (the top-ranked variant) and rs113130831; cardiovascular - rs10733356 and rs2210327, both at magnitude 4.50; immune function - rs12349943, rs3885291, and rs893419645, the most numerically represented category at this tier; liver - rs10963680; vision - rs116910509; kidney - rs548186332; and cancer - rs79368155. The three-variant immune cluster is worth noting because convergence across multiple independent variants at the same locus tends to strengthen an association.

Evidence quality

The strongest signal on file is rs78291060 (magnitude 5.50, rare disease). Several magnitude 4.50 variants - including rs10733356, rs10963416, rs10963602, rs10963680, rs116910509, and rs12349943 - have published editorial pages, indicating they have undergone independent review. Effect sizes, sample sizes, and formal replication status are not available in the current dataset, so the breadth and robustness of these associations cannot be fully characterised from the variant list alone. Most associations arising from GWAS - genome-wide association studies, scans of thousands to millions of people's genomes for variants statistically linked to a trait - represent modest average shifts in risk across populations, and findings from single cohorts should be treated as preliminary until independently replicated.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual - carrying a listed variant does not mean a person will develop any associated condition. Nothing here constitutes medical advice, a diagnosis, or a recommendation to act.