CUX2, variants, traits, and what the research shows

CUX2 - what this gene does

CUX2 is a human gene whose catalogued variants link it most prominently to rare disease categories in GWAS research (genome-wide association studies - large-scale scans of many people's genomes for variants statistically linked to a trait), with additional signals in cardiovascular and liver traits. The current dataset does not provide enough mechanistic detail to characterize a specific biological function.

Key takeaways

• Multiple high-magnitude variants in this gene are associated with rare disease categories.
• One variant at the same high-magnitude tier is linked to cardiovascular traits.
• A separate variant points toward liver-related associations.
• Over 200 variants are catalogued, with 15 carrying prior research summaries.
• All signals are population-level GWAS associations, not certainties for any individual.

Notable variants

Six variants share the highest recorded magnitude (5.50) and are each tagged to rare disease: rs1259294051, rs1351590882, rs1353211680, rs1433050149, rs143575822, and rs200420920. rs748502176 reaches that same 5.50 magnitude in a cardiovascular context. rs10744770 carries a magnitude of 4.50 and has a dedicated research page. rs4766568, also at magnitude 4.50, is associated with liver traits.

Trait associations

Rare disease is the dominant theme: at least eleven variants carry that classification, including the six highest-magnitude signals - rs1259294051, rs1351590882, rs1353211680, rs1433050149, rs143575822, and rs200420920 - plus rs1565909334, rs2499773555, rs1049506451, rs1245466249, and rs1309641880. Recurrence across multiple distinct variants strengthens this signal. Cardiovascular traits appear through rs748502176, and liver traits through rs4766568.

Evidence quality

The dataset covers 223 total variants, with 15 carrying prior research summaries. The highest-magnitude signals score 5.50, clustering in rare disease, with one cardiovascular variant at the same level. Magnitude scores combine effect size and evidence weight, but detailed statistics such as odds ratios, beta coefficients, and cohort sample sizes are not available in the current input. All signals are GWAS associations, establishing statistical correlation at the population level rather than proven biological causation. Replication across independent cohorts is not confirmed in the data provided, and all associations should be treated as preliminary.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual - carrying a particular allele does not mean a condition will or will not develop. Nothing here constitutes a prescription, diagnosis, or medical recommendation of any kind.