CAMK1D, variants, traits, and what the research shows

CAMK1D - what this gene does

CAMK1D (also catalogued as Calcium/Calmodulin-Dependent Protein Kinase ID) carries variants that have been statistically associated with a broad cluster of traits spanning vision, metabolism, rare disease, neurological function, liver biology, cancer, cardiovascular health, and medication response.

Key takeaways

• Variants in this gene are linked to at least eight distinct trait categories, from vision and metabolism to cancer and cardiovascular conditions.
• Two separate variants are associated with rare disease phenotypes, providing modest independent replication of that signal.
• A pharmacogenomics-linked variant suggests this gene may influence how individuals respond to certain medications.
• Neurological associations appear across two distinct variants, adding tentative support for a role in nervous system biology.
• All findings are population-level statistical associations - they do not predict individual health outcomes.

Notable variants

All top-ranked variants share a magnitude score of 4.50. Among those carrying specific trait annotations: rs184018593 is linked to vision; rs184224980 and rs533941215 are both associated with rare disease phenotypes; rs185932673 is linked to metabolic traits; and rs45479699 carries a pharmacogenomics flag. Neurological signals appear at rs61663121 and rs72767677. Rounding out the picture, rs76426122 is associated with liver-related traits, rs78765853 with cancer, and rs7902334 with cardiovascular phenotypes.

Trait associations

Vision is implicated via rs184018593. Metabolic traits appear through rs185932673. Rare disease associations are supported by two independent variants - rs184224980 and rs533941215 - which modestly strengthens that signal through replication. Pharmacogenomic relevance is flagged at rs45479699, suggesting a possible role in how medications are processed or respond in the body. Neurological phenotypes are linked at both rs61663121 and rs72767677. Additional associations touch liver function (rs76426122), cancer risk (rs78765853), and cardiovascular traits (rs7902334).

Evidence quality

Of 96 variants on file, 24 carry prior research summaries; the remainder have trait annotations but lack published editorial detail at this time. All top-ranked variants share a magnitude of 4.50. Most signals derive from GWAS - genome-wide association studies that scan large populations for DNA variants statistically linked to a trait - and represent population-level effect sizes rather than causal proof. The breadth of trait coverage across a single gene region may reflect genuine pleiotropy (one gene influencing multiple biological pathways), shared linkage disequilibrium (the tendency of nearby DNA variants to travel together in populations and therefore appear associated with otherwise unrelated traits), or signals that have not yet been fully resolved into distinct loci. No multi-cohort replication counts are provided in the current input; individual variant pages should be consulted for sample sizes and study-level details.

What this is NOT

These variants are population-level statistical signals from genomic studies and are not deterministic predictors of any trait, condition, or risk for any individual. This content does not constitute medical advice, a diagnosis, or a recommendation to take or avoid any action.