ABCA1, variants, traits, and what the research shows

ABCA1 - what this gene does

Variants identified in this gene cluster around two broad research themes: rare disease and cardiovascular conditions. Without individual SNP summaries on file, no specific mechanistic or clinical claims can be made beyond those trait associations.

Key takeaways

• This gene has variants linked to both rare disease and cardiovascular research categories.
• All top-ranked variants currently on file carry a magnitude score of 5.50, the highest tier in the present dataset.
• Multiple variants associate with cardiovascular traits, and a comparable set associates with rare disease categories.
• With 743 total variants catalogued and no individual summaries yet available, the full picture of this gene's associations is still being built out.
• These are population-level research signals, not personal health predictions.

Notable variants

Among the variants currently on file, all carry the top catalogued magnitude score (5.50) and span both trait themes. On the rare disease side, rs1030888252, rs113077827, rs1238816267, and rs137854495 are among those flagged at this tier. On the cardiovascular side, rs116034780, rs13306077, rs138487227, and rs138992952 appear in the current dataset. Because no individual SNP summaries are yet on file, the specific traits and effect sizes for each variant cannot be reported here.

Trait associations

The variants on file fall into two broad categories. The rare disease category includes rs1030888252, rs113077827, rs1238816267, rs1262486352, rs13306068, rs13306073, rs13306080, rs137854495, rs137854498, rs137854499, and rs137854502. The cardiovascular category includes rs116034780, rs1250688041, rs13306077, rs138056193, rs138487227, rs138992952, rs139457469, rs140130551, and rs140365800. No finer-grained trait labels are available in the current dataset.

Evidence quality

All 20 listed variants carry a magnitude score of 5.50, the highest tier present in this dataset, but magnitude here is a sorting signal rather than a validated clinical effect size. Individual SNP summaries are not yet on file for this gene, meaning odds ratios, beta coefficients (measures of how strongly a variant shifts a trait value on average across a population), sample sizes, and replication status cannot be reported. The 743 total variants on file suggest a broad research footprint across rare disease and cardiovascular literature, but without per-variant detail the strength of any individual association cannot be assessed. Readers should treat these broad trait-theme labels as starting points for further investigation, not confirmed associations.

What this is NOT

These variants are population-level statistical signals from research studies, not deterministic predictors of health outcomes for any individual. This entry does not prescribe, diagnose, or advise any course of action.