LRP1B, variants, traits, and what the research shows

LRP1B - what this gene does

LRP1B (low-density lipoprotein receptor-related protein 1B) is a gene whose catalogued variants cluster most heavily around rare disease associations, with additional signals in cancer, neurological conditions, and pharmacogenomics - the study of how genetic variation influences individual responses to medicines.

Key takeaways

• The ten highest-priority variants in this gene are all linked to rare disease categories.
• Three separate variants carry cancer-related associations, suggesting a recurring signal in oncology research.
• One variant is linked to neurological conditions; another carries a pharmacogenomics association.
• This gene has 388 variants on file - a large catalog - though only 32 have published research summaries.
• All findings here are population-level statistical signals, not predictors for any individual.

Notable variants

The four top-ranked variants - rs138996626, rs142683349, rs144347127, and rs529890891 - are all flagged for rare disease associations. A second cluster of rare-disease variants, including rs139661019, extends that theme further down the priority list. On the cancer side, rs10210358, rs146407921, and rs182867289 each carry independent cancer-trait associations. Beyond those, rs13034371 is linked to neurological traits and rs1882642 is tagged with a pharmacogenomics signal.

Trait associations

Rare disease is the dominant theme across this gene's variant catalog: all ten of its highest-priority entries, anchored by rs138996626, rs142683349, rs144347127, and rs529890891, share this classification. Cancer associations appear independently across rs10210358, rs146407921, and rs182867289 - three separate variants converging on the same broad trait domain, which adds weight to the signal even though a shared biological mechanism is not established from the available data. The neurological theme, represented by rs13034371, and the pharmacogenomics association at rs1882642 round out a wide-ranging trait profile.

Evidence quality

Of 388 variants on file for this gene, 32 have published research summaries; three - rs11895588, rs116550525, and rs10210358 - have dedicated editorial pages. The source data reviewed here does not include explicit sample sizes, odds ratios, or cohort replication details for the top-ranked variants, so the relative strength of individual associations cannot be independently verified from what is available. The magnitude scores reflect an internal prioritization based on evidence and effect-size indicators, not a clinical or regulatory classification. All findings should be treated as preliminary unless a variant's individual page states otherwise.

What this is NOT

These variants are population-level statistical associations identified in genomic research - they are not deterministic predictors of any condition for any individual. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation to take any action.