CDK6, variants, traits, and what the research shows

CDK6 - what this gene does

Based on the variants currently on file, CDK6 shows its strongest genetic associations with rare disease, and additional signals link it to cancer, musculoskeletal, cardiovascular, and metabolic traits.

Key takeaways

• The two strongest CDK6 variants are both linked to rare disease
• A separate CDK6 variant carries a cancer association
• Lower-magnitude variants connect this gene to musculoskeletal, cardiovascular, and metabolic traits
• Most associations come from population-level genome studies and do not predict individual outcomes
• 122 variants are catalogued, with many still awaiting full trait annotation

Notable variants

The two highest-magnitude entries in this gene's catalogue are rs35654944 and rs606231255, both scoring 5.50 and both associated with rare disease - these represent the strongest signals available in the current dataset. rs147341073 (magnitude 2.80) carries a cancer association. A cluster of magnitude 3.00 variants - including rs1011850285, rs1394553206, and rs2116034735 - are on file but currently lack published trait annotations. Among the lower-magnitude signals, rs10264916 links to musculoskeletal traits, rs10269774 to cardiovascular traits, and rs11533993 to metabolic traits.

Trait associations

Rare disease anchors the strongest signals, with rs35654944 and rs606231255 both sitting at magnitude 5.50. Cancer appears as a distinct association via rs147341073 at magnitude 2.80. Musculoskeletal, cardiovascular, and metabolic trait categories each appear once among the magnitude 2.20 signals - rs10264916, rs10269774, and rs11533993 respectively - and each has a published research page, suggesting editorial review has been completed for those associations.

Evidence quality

The two rare-disease variants, rs35654944 and rs606231255, carry the highest magnitude scores in this catalogue (5.50), indicating stronger effect sizes or better-established statistical evidence relative to the rest of the gene's signals - though full study metadata including sample sizes and replication status is not available in the current summaries. Of 122 total variants on file, 16 have prior research summaries, and a number of magnitude 3.00 entries carry no trait annotation at all. The cancer signal (rs147341073, magnitude 2.80) and the musculoskeletal, cardiovascular, and metabolic signals (magnitude 2.20) are lower-magnitude associations; without odds ratios or replication data in the provided summaries, their robustness cannot be fully assessed here.

What this is NOT

These variants are population-level statistical signals from genome-wide association studies (GWAS - a method that scans thousands of genomes for variants statistically linked to a trait), not deterministic predictors for any individual. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation.