CACNA1C, variants, traits, and what the research shows

CACNA1C - what this gene does

Across 1,308 catalogued variants, CACNA1C shows associations across three broad trait themes: cardiovascular conditions, neurological conditions, and rare diseases. No individual variant summaries are yet available for this gene, so the descriptions below reflect category-level classifications drawn directly from the variant record.

Key takeaways

• CACNA1C has over 1,300 variants on file, with 24 carrying prior research summaries.
• The top 20 highest-ranked variants all share a magnitude score of 5.50, the highest tier in this dataset.
• Cardiovascular trait associations account for 12 of the top 20 variants, making them the most represented theme.
• Neurological and rare disease associations also appear among the highest-magnitude variants.
• All variant signals here are population-level statistical patterns, not individual health predictors.

Notable variants

All 20 of the top-listed variants carry a magnitude score of 5.50. Among cardiovascular-linked entries, rs121912775, rs1131653, rs111442547, and rs1009822245 are representative high-ranked examples. On the neurological side, rs1048241141 and rs114851656 are the most notable classified entries. For rare disease, rs121912776 and rs1057518301 stand out as top-ranked variants in that category.

Trait associations

The variant record for this gene spans three broad categories. Cardiovascular associations are the most densely represented: twelve of the top 20 variants - including rs1064796583, rs113929946, rs1168511209, rs1178438128, rs1220725707, rs1221384071, rs1231959976, and rs1297869395 - fall under this theme. Neurological associations cover three top-ranked variants, including rs1057518994, and rare disease classifications account for five, including rs1247088024, rs1267845940, and rs1279028766. Because no individual variant summaries are available yet, the specific conditions within each category cannot be described without risk of introducing inaccurate claims.

Evidence quality

All 20 of the highest-ranked variants share a magnitude score of 5.50 - the top tier represented in this dataset - and the gene carries 1,308 variants in total, with 24 holding prior research summaries. Because no individual variant-level summaries have been compiled yet for this gene, it is not possible to characterize replication status, sample sizes, or study design (for example, whether signals come from a GWAS - a genome-wide association study that scans many people's DNA for variants statistically linked to a trait - or from clinical case series). The trait categories here reflect classification labels rather than described effect sizes or cohort data. Until individual summaries are compiled, the evidence depth for this gene entry is limited to its variant count and category distribution.

What this is NOT

These variants are population-level statistical signals catalogued across many individuals, not deterministic predictors of what any single person will experience. This page does not prescribe, diagnose, or advise any course of action.