CACNB2, variants, traits, and what the research shows

CACNB2 - what this gene does

Variants in CACNB2 cluster predominantly around cardiovascular traits; of the 20 highest-priority variants in this catalogue, 19 carry a cardiovascular classification, with one - rs200764884 - flagged under rare disease instead.

Key takeaways

• 19 of the 20 top-ranked variants in this gene are linked to cardiovascular traits, pointing to a consistent cardiovascular theme.
• One high-priority variant is associated with a rare disease category rather than common cardiovascular conditions.
• All top-ranked variants share the same evidence-weighted priority score of 5.50, indicating a uniform tier of association strength.
• Detailed study results are not yet available for individual variants - associations are drawn from the variant catalogue alone.
• Multiple independent variants in the same gene pointing to the same trait can strengthen the overall biological signal.

Notable variants

The 20 highest-priority variants - all carrying a magnitude (an evidence-weighted priority score combining association strength and evidence quality) of 5.50 - span a predominantly cardiovascular theme. Among the cardiovascular-flagged entries, rs121917812, rs137886839, rs140542975, rs140614930, and rs142639223 represent five independent signals within this tier. Additional cardiovascular-flagged entries include rs143326262 and rs144182966. The lone rare-disease-flagged variant, rs200764884, stands apart from the otherwise uniform cardiovascular clustering.

Trait associations

The dominant trait association in the top-ranked variants is cardiovascular - 19 of 20 entries carry that classification, including rs121917812, rs137886839, rs145638628, rs200367454, and rs202152674, among others. When multiple distinct variants in the same gene independently associate with the same trait, it can support a more robust overall link between the gene and that trait. The single rare-disease-flagged variant rs200764884 suggests the gene may have associations beyond common cardiovascular conditions, though no further detail is available at this time.

Evidence quality

All 20 listed variants carry a magnitude of 5.50, reflecting a consistent cataloguing priority tier. However, no sample sizes, effect sizes (such as odds ratios - a measure of how much more or less likely an outcome is in one group versus a reference - or beta coefficients, which capture the direction and size of a continuous trait association), replication cohort data, or study design information are available for any of these variants at present. Without knowing whether these associations derive from large multi-cohort GWAS (genome-wide association studies - scans that test millions of genetic variants across large populations for statistical links to a trait) or smaller single-cohort analyses, the robustness of individual signals cannot be assessed. The uniform magnitude across all 20 entries reflects consistent priority assignment, not necessarily identical biological effect.

What this is NOT

These variants are population-level statistical signals - they describe tendencies observed across groups of people and are not deterministic predictors for any individual. This page does not prescribe, diagnose, or advise any action based on genetic information.