CACNA1D, variants, traits, and what the research shows

CACNA1D - what this gene does

CACNA1D carries variants linked to trait themes spanning rare disease, cancer, hearing, neurological conditions, and kidney - based on the highest-priority variants currently on file, rare-disease associations predominate.

Key takeaways

• Rare-disease linked variants make up the largest share of the 20 highest-priority entries for this gene
• Four separate variants are flagged for cancer-related trait associations
• Two variants carry signals connected to hearing traits
• One variant each is linked to neurological and kidney trait categories
• Over 1,000 variants are catalogued for this gene, spanning multiple disease areas

Notable variants

Among the highest-priority entries, rs1042358908 and rs115066564 represent the rare-disease cluster - 12 of the 20 top-ranked variants share this category. rs140215004 and rs2473830105 anchor the cancer theme, which spans four entries in total. The hearing category contributes two entries - rs143354476 and rs146747080 - and rs141581705 and rs147146258 mark the sole neurological and kidney entries respectively.

Trait associations

The 20 highest-priority variants on file touch five distinct trait areas. Rare disease is the most represented theme, with 12 entries: rs1042358908, rs115066564, rs139380111, rs142184099, rs144474773, rs144688228, rs147933585, rs147973409, rs200382504, rs2094903479, rs2473017875, and rs2473767558. Cancer associations appear across four variants - rs140215004, rs1475661078, rs2473767486, and rs2473830105 - making it the second-largest category. Hearing is represented by rs143354476 and rs146747080, while neurological and kidney each appear once, in rs141581705 and rs147146258 respectively.

Evidence quality

Of the 1,010 total catalogued variants for this gene, 25 carry prior research summaries; none of those summaries are yet available in this dataset. The entries here reflect variant-level trait labels alone - no effect sizes (measures of how strongly a variant relates to a trait), odds ratios (a measure of how much a variant shifts the statistical probability of a condition), or sample sizes accompany the current records. All 20 highest-priority entries share a magnitude score (an internal ranking metric) of 5.50; that value does not substitute for peer-reviewed quantitative evidence, and all findings described here should be treated as preliminary until the underlying variant records are reviewed.

What this is NOT

These variants represent population-level statistical signals drawn from genomic research, not deterministic predictors of any outcome for any individual. This content is provided for informational and educational purposes only; nothing here constitutes medical advice, diagnosis, or a recommendation to take any action.