SLCO1B1, variants, traits, and what the research shows

SLCO1B1 - what this gene does

Based on the variant data on file, SLCO1B1 shows its strongest associations with rare disease phenotypes, with additional signals spanning cancer, musculoskeletal, neurological, and cardiovascular trait categories.

Key takeaways

• The five highest-magnitude variants in this gene are all linked to rare disease phenotypes.
• Multiple independent variants point to cancer associations, adding some weight to that signal.
• A musculoskeletal association appears at the same evidence tier as the cancer variants.
• Neurological and cardiovascular signals are present but each currently rests on a single variant, making them preliminary.
• 192 variants are catalogued for this gene; associations are statistical signals, not individual predictions.

Notable variants

The five variants with the highest magnitude scores (an internal measure combining effect size and evidence strength) - rs183501729, rs71581991, rs763873797, rs76647672, and rs79135870 - all score 5.50 and are linked to rare disease traits. At magnitude 4.50, two variants - rs10841753 and rs11045818 - are associated with cancer, while rs11519272 carries a musculoskeletal association and rs2417957 carries a neurological association.

Trait associations

Rare disease is the dominant trait theme: the five magnitude-5.50 variants - rs183501729, rs71581991, rs763873797, rs76647672, and rs79135870 - all point to this category, as does rs200994482 at magnitude 5.00. Cancer associations appear across multiple independent variants; rs10841753, rs11045818, and rs4149080 all point to cancer-related phenotypes, providing some replication within the trait category. A musculoskeletal association is captured by rs11519272. A neurological signal appears at rs2417957 and a cardiovascular signal at rs1240745256; each of these is currently represented by a single variant and should be treated as a preliminary finding.

Evidence quality

Of 192 variants catalogued for this gene, 32 carry prior research summaries, indicating moderate but incomplete editorial coverage. Rare disease variants dominate the top of the magnitude scale, while cancer and musculoskeletal variants cluster at 4.50. No individual sample sizes, odds ratios (a measure of how much more likely a trait is among people with vs. without a variant), or beta coefficients (a measure of continuous effect size) are available in the current data extract, which limits precise characterization of effect sizes. The cancer signal benefits from three independent variants pointing to the same trait category - multi-variant convergence strengthens a finding compared with a single association; the neurological and cardiovascular entries each rest on one variant and should be treated as preliminary.

What this is NOT

The variants described here are population-level statistical associations - not deterministic predictors - and effect sizes vary widely across individuals and ancestry groups. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation for any clinical or lifestyle action.