CTBP2, variants, traits, and what the research shows

CTBP2 - what this gene does

Variants catalogued at CTBP2 (C-terminal binding protein 2) have been associated in population-level genetic research with traits spanning rare disease, cancer, metabolic conditions, hearing, and neurological phenotypes. The highest-magnitude signals in the dataset are concentrated in the rare disease category.

Key takeaways

• Three of the highest-magnitude variants at this gene are linked to rare disease categories
• Two separate variants connect this gene to cancer in population-level research
• Additional signals tie this gene to metabolic health, hearing, and neurological traits
• With 85 variants on file, this gene shows up across a broad range of trait categories
• These are statistical associations from large population studies, not personal predictions

Notable variants

The three highest-magnitude entries - rs755416442, rs76079088, and rs76203768 - each score 5.50 and are all tied to rare disease. Cancer appears at rs9664044 (magnitude 4.50) and again at rs11371876 (magnitude 2.20), giving the cancer signal some internal replication across the gene region. A neurological association is carried by rs146378109 (magnitude 2.80). Lower down, rs10901854 and rs10901863 round out the picture with metabolic and hearing associations respectively.

Trait associations

Rare disease is the most prominently represented theme, with three variants - rs755416442, rs76079088, and rs76203768 - reaching the highest magnitudes on file. Cancer appears at two separate entries - rs9664044 at magnitude 4.50 and rs11371876 at magnitude 2.20 - meaning the cancer signal recurs at more than one point in this gene region, which adds modest weight to that association. Metabolic traits are represented by three lower-magnitude variants: rs10901854, rs11245456, and rs11245482. A single hearing-linked variant, rs10901863, and a single neurological-linked variant, rs146378109, round out the trait landscape.

Evidence quality

The three rare disease variants at magnitude 5.50 represent the strongest signals in this dataset. Cancer associations at two independent variants - rs9664044 and rs11371876 - provide limited internal replication within this gene region. The majority of entries fall at magnitude 2.20, a range typical of GWAS (genome-wide association study - a study scanning hundreds of thousands of genomes for variants statistically correlated with a trait) findings that reflect population-level trends rather than confirmed causal biology. Full effect sizes, odds ratios, and sample sizes are not available in the current dataset for most variants, and the majority of the 85 total variants on file lack published trait annotations. These findings should be treated as hypothesis-generating rather than conclusive.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual, and carrying any particular variant does not guarantee any specific health outcome. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation of any kind.