CNTNAP5, variants, traits, and what the research shows

CNTNAP5 - what this gene does

Based on the variants catalogued for this gene, CNTNAP5 shows genetic associations spanning rare disease, kidney function, mental health, neurological conditions, immune response, and medication response (pharmacogenomics - the study of how genes affect a person's response to drugs).

Key takeaways

• The strongest variant signal is linked to rare disease, carrying the highest magnitude score on file.
• Two independent mental health variants point to a possible connection between this gene and mental health traits.
• Variants also connect the gene to kidney function, neurological conditions, and immune response.
• A pharmacogenomics variant suggests a potential role in how the body processes certain medications.
• All signals are population-level statistical associations - not individual predictions of health outcomes.

Notable variants

The highest-priority variant on file is rs182009600, which carries a magnitude score of 5.50 and is linked to rare disease. At magnitude 4.50, a cluster of variants spans distinct trait areas: rs111935984 connects to kidney function; rs12711680 and rs4848939 both associate with mental health - two independent signals in the same domain, which adds modest weight to that link; rs142107007 connects to neurological traits; rs1474403060 and rs150248456 both carry immune associations; and rs17727261 links to pharmacogenomics. Two additional magnitude 4.50 variants - rs1946552 and rs780024 - are on file without trait annotations.

Trait associations

The variants on file connect this gene to six broad areas. Rare disease is anchored by rs182009600, the highest-magnitude signal. Kidney function appears through rs111935984. Mental health is represented by two separate variants - rs12711680 and rs4848939 - which independently point to this trait area, a pattern that modestly strengthens confidence compared with a single signal. Neurological traits appear via rs142107007. Immune function is supported by two variants, rs1474403060 and rs150248456. Pharmacogenomics is flagged by rs17727261.

Evidence quality

This gene has 179 variants on file, of which 17 carry prior research summaries, indicating moderate curation depth. The top variant rs182009600 carries the highest magnitude score in the dataset (5.50), suggesting a relatively strong effect size or evidence weight by the scoring system used here. For the magnitude 4.50 cluster, specific sample sizes, odds ratios, and replication cohort details are not available in the current summaries, making it difficult to fully assess effect sizes or confirm multi-cohort replication. The larger group of magnitude 3.00 variants represents lower-priority or less well-characterized signals. Treat all associations as preliminary pointers to areas of potential interest rather than confirmed biological findings.

What this is NOT

These variants are population-level statistical signals from genetic association studies (GWAS - a study that scans many people's genomes for variants statistically associated with a trait), not deterministic predictors of any health outcome for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a clinical recommendation.