MAD1L1, variants, traits, and what the research shows

MAD1L1 - what this gene does

Variants catalogued in MAD1L1 span six distinct trait domains: cancer, rare disease, mental health, neurological, hormonal, and methylation (a chemical modification to DNA that can influence gene activity). Pharmacogenomics - the study of how genetic variation influences a person's response to drugs - also appears in the top-20 list. Together, these labels trace the shape of what the gene's 264-variant catalogue covers.

Key takeaways

• High-magnitude variants in this gene are linked to cancer and rare disease.
• Five separate variants carry mental health associations - notable breadth for a single gene locus.
• Methylation and pharmacogenomics signals appear alongside the cancer and mental health associations.
• All findings are population-level statistical associations, not individual predictions.
• 264 variants are on file; the highest-evidence entries are reviewed here.

Notable variants

The five highest-magnitude entries (score 5.50) split across two domains: rs121908981, rs1341891692, and rs750824848 carry cancer labels, while rs2534062497 and rs776490151 are flagged for rare disease. Among the magnitude-4.50 tier, mental health associations are the most numerous - rs11764590 and rs55893771 are two of five such variants in this region, alongside rs1533827, rs2056477, and rs34809719. The pharmacogenomics variant rs3800917 is the only drug-response entry in the reviewed set.

Trait associations

Cancer is the strongest-magnitude domain, with three magnitude-5.50 variants (rs121908981, rs1341891692, rs750824848) and one at 4.50 (rs192039210). Rare disease appears at the top magnitude tier via rs2534062497 and rs776490151. Mental health is the numerically broadest domain: five independent variants - rs11764590, rs1533827, rs2056477, rs34809719, and rs55893771 - share this label. The convergence of five distinct rsids on the same trait within one gene region is a pattern worth noting, though individual study designs and replication status have not been reviewed here. Single-variant entries cover neurological (rs139786718), hormonal (rs145044204), methylation (rs1637750, rs3800932), and pharmacogenomics (rs3800917).

Evidence quality

The full catalogue contains 264 variants, of which 48 carry prior research summaries; the 20 highest-magnitude variants are reviewed here. Magnitude scores reflect a composite of effect size and evidence strength, but specific odds ratios, beta coefficients, and study sample sizes are not available in the current data - those details appear on each variant's individual page. The five magnitude-5.50 variants represent the strongest signals on file. The five-variant mental health cluster at magnitude 4.50 is notable for breadth, but replication status and cohort sizes per variant require per-page review before drawing conclusions.

What this is NOT

These variants are population-level statistical signals from GWAS (genome-wide association studies - research that scans large groups of people's genomes for variants statistically linked to a trait) and related methods; they are not deterministic predictors of any outcome for any individual. This entry does not constitute medical advice, a diagnosis, or a recommendation of any kind.