ADAMTS6, variants, traits, and what the research shows

ADAMTS6 - what this gene does

The available variant catalogue for ADAMTS6 spans five trait themes - vision, rare disease, mental health, metabolic conditions, and neurological traits - but detailed functional summaries for individual variants were not available at the time of writing. The trait associations described here are grounded entirely in the variant list and magnitude rankings on file.

Key takeaways

• Seven separate variants in this gene are linked to vision-related traits - the most repeated signal in the dataset.
• The highest-priority variant, rs1272612301, is associated with rare disease research.
• Mental health and neurological trait associations each appear across two independent variants.
• These are GWAS (genome-wide association study - a study that scans many people's genomes for variants statistically associated with a trait) signals, reflecting population-level patterns rather than individual predictions.
• 128 total variants are catalogued in this gene across five distinct trait domains.

Notable variants

The single highest-magnitude entry is rs1272612301 (magnitude 5.00), catalogued under rare disease research. At magnitude 4.50 - the next priority tier - seven variants are linked to vision traits: rs10064391, rs10471310, rs10514979, rs112266491, rs2640717, rs62369658, and rs6861076. At the same tier, mental health associations appear for rs13183791 and rs143405544; neurological associations for rs141056471 and rs7708235; and a metabolic association for rs140453320.

Trait associations

Vision is the dominant trait domain, with seven magnitude-4.50 variants - rs10064391, rs10471310, rs10514979, rs112266491, rs2640717, rs62369658, and rs6861076 - all sharing the same priority score. When multiple variants within a gene point to the same trait domain, the pattern may reflect a genuine locus-level association, though linkage disequilibrium (the tendency for nearby DNA variants to be inherited together) can also produce clustered signals that are not fully independent. Rare disease is represented by rs1272612301, the gene's top-ranked variant. Mental health associations cover rs13183791 and rs143405544; neurological traits cover rs141056471 and rs7708235; and rs140453320 maps to metabolic research.

Evidence quality

The dataset contains 128 total variants, 21 of which have prior published summaries; however, the detailed summaries for the four top-ranked vision variants flagged as having published pages - rs112266491, rs10064391, rs10514979, and rs10471310 - were not available at the time of writing, so specific odds ratios, sample sizes, and replication status cannot be reported here. The magnitude scores (3.00-5.00) represent an internal composite of effect size and evidence strength; they indicate relative priority within the gene but are not a direct measure of clinical significance. The concentration of seven vision-associated variants at the same magnitude tier is the most notable structural pattern in the dataset, but this signal requires full summary statistics and independent replication to be interpreted with confidence.

What this is NOT

These variants are population-level statistical signals from GWAS and related research - they are not deterministic predictors of any trait or condition for any individual. Nothing in this entry constitutes medical advice, a diagnosis, or a clinical recommendation.