CDKN2B-AS1, variants, traits, and what the research shows

CDKN2B-AS1 - what this gene does

Variants across CDKN2B-AS1, a gene studied extensively through genome-wide association studies (GWAS - population-scale scans that identify DNA variants statistically linked to traits), cluster around five broad trait themes: vision-related conditions, metabolic disorders, cancer susceptibility, cardiovascular disease, and mental health phenotypes.

Key takeaways

• CDKN2B-AS1 carries variants associated with a wide range of conditions, spanning eye diseases, cancer risk, heart disease, metabolic disorders, and mental health traits.
• Several of the highest-magnitude variants on file are linked to vision conditions and cancer susceptibility.
• Cardiovascular associations appear across at least three independent variants, which strengthens that particular signal.
• Metabolic and mental health connections are also represented among the top-ranked variants.
• All findings are population-level statistical signals, not deterministic predictors for any individual.

Notable variants

The highest-magnitude associations on file cover five trait domains: vision, linked to rs1333037 and rs523096; cancer susceptibility, linked to rs75883022 and rs79356439; metabolic conditions, linked to rs137893140 and rs944801; and mental health, linked to rs861189. At a lower magnitude tier, the cardiovascular signal appears at rs10757278 and rs10757274, both with published research summaries on file.

Trait associations

Vision-related conditions are linked to at least two variants - rs1333037 and rs523096. Cancer risk associations are the most numerous: independent signals appear at rs75883022, rs79356439, rs10757272, rs1333040, rs1333047, rs1412829, and rs145929329 - seven catalogued variants sharing this trait domain, suggesting this gene region attracts recurring attention in cancer GWAS. Metabolic traits are associated with rs137893140, rs944801, rs10811661, and rs1333051. Cardiovascular associations appear at rs10757274, rs10757278, and rs10965248 - three independent variants sharing a trait domain, providing meaningful cross-variant replication for that signal. A mental health association is recorded at rs861189, and an immune-related association at rs10965250.

Evidence quality

Of the 222 variants catalogued in this gene, 69 carry prior research summaries and 8 have individually published editorial pages - reflecting sustained research interest in this region. The cardiovascular signal is the most replicated within this dataset, appearing across three independent variants (rs10757274, rs10757278, rs10965248) with published summaries for each. Cancer associations span seven catalogued variants, notable for breadth across the gene. However, specific effect sizes such as odds ratios, cohort sample sizes, and multi-cohort replication details are not present in the source material for this entry - the magnitude scores are the primary evidence-quality indicator available here, and individual findings should be interpreted cautiously without those details.

What this is NOT

The variants described here are population-level statistical associations detected in GWAS research - they reflect average differences across large groups and are not deterministic predictors of any health outcome for any individual. This page does not prescribe, diagnose, or advise any course of action.