CSMD1, variants, traits, and what the research shows

CSMD1 - what this gene does

CSMD1 has catalogued variants spanning several trait themes - most prominently rare disease, mental health, and metabolic conditions, with additional signals in cardiovascular, liver, and immune phenotypes.

Key takeaways

• Variants in this gene span six distinct trait domains: rare disease, mental health, metabolic, cardiovascular, liver-related, and immune.
• The highest-magnitude variants on file are all associated with rare disease categories.
• Mental health associations appear across at least two independent variants, suggesting a recurring signal in that domain.
• 680 total variants have been catalogued, with 54 carrying prior research summaries.
• All associations are population-level statistical signals, not individual health predictors.

Notable variants

The three highest-magnitude variants currently on file - rs143951764, rs181980598, and rs199588930, each reaching a magnitude of 5.50 - are all associated with rare disease traits. Just below them, rs778028015 (magnitude 5.00) also carries a rare disease label. Among the magnitude-4.50 variants, mental health signals appear at rs10105578 and rs11984453; a metabolic association is recorded at rs112328442; a cardiovascular signal at rs116429934; a liver-related trait at rs12056500; and an immune trait at rs139000445.

Trait associations

The catalogued variants point to the following trait domains:

• Rare disease: The four highest-magnitude variants - rs143951764, rs181980598, rs199588930, and rs778028015 - all carry rare disease associations, as does rs1379326.
• Mental health: At least two distinct variants - rs10105578 and rs11984453 - carry mental health trait labels; the presence of more than one variant flagged in this domain is consistent with a recurring association.
• Metabolic: rs112328442 is linked to a metabolic trait.
• Cardiovascular: rs116429934 carries a cardiovascular trait association.
• Liver: rs12056500 is associated with a liver-related trait.
• Immune: rs139000445 carries an immune trait label.

Evidence quality

The strongest signals by magnitude are the rare disease variants at 5.50, though specific effect sizes, odds ratios, and cohort details are not available in the current summary data. With 680 variants on file and 54 carrying prior research summaries, this is a well-surveyed locus. Most associations are consistent with GWAS (genome-wide association study - a study design that scans many people's genomes for variants statistically associated with a trait) methodology, which identifies correlations rather than confirmed causal mechanisms. The spread of associations across six trait domains is notable, but without replication data or sample sizes for each individual association, findings should be treated as hypothesis-generating rather than conclusive.

What this is NOT

The variants described here are population-level statistical signals derived from group-level studies; they are not deterministic predictors of any health outcome for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a clinical recommendation.