CDKAL1, variants, traits, and what the research shows

CDKAL1 - what this gene does

Variants identified at this locus span at least seven distinct trait domains - metabolic, neurological, mental health, cardiovascular, cancer, sleep, and kidney - suggesting unusually broad phenotypic reach. Specific biological mechanisms are not captured in the current dataset, so the sections below characterize trait associations rather than underlying biology.

Key takeaways

• CDKAL1 variants are linked to at least seven distinct trait domains, including metabolism, brain health, and heart function
• Metabolic and neurological signals are the most represented, each appearing across multiple independent variants
• Mental health associations appear at two separate variants, providing modest within-dataset replication
• Cardiovascular traits are flagged by three distinct variants at this locus
• All associations are population-level statistical signals, not individual predictions

Notable variants

Seven variants anchor the key signals across the gene's main trait domains. rs117835232 and rs2206734 represent the metabolic cluster; rs11970030 leads the neurological signal; rs12192642 carries the primary mental health association; rs9368219 flags cardiovascular phenotypes; and rs144249391 and rs183412314 mark cancer and sleep signals respectively. The first three have published editorial pages, suggesting the deepest documentation of any variant at this locus.

Trait associations

Metabolic traits appear most frequently, with four variants independently flagging this domain - rs117835232, rs118065692, rs2206734, and rs9356744 - and their recurrence across distinct variants modestly strengthens that signal. Neurological traits form the next-largest cluster, represented by rs11970030, rs4710962, rs62400067, rs78614455, and rs9295486. Mental health associations appear at both rs12192642 and rs6456379, offering two-variant replication within this dataset. Cardiovascular phenotypes are tagged by rs144740773, rs148988294, and rs9368219. Cancer (rs144249391, rs58800477), sleep (rs183412314), and kidney (rs72834324) traits each appear at one or two variants, representing thinner signals. Two variants - rs7752602 and rs9368220 - lack trait annotations in the current dataset.

Evidence quality

This gene has 184 variants on file, of which 25 carry prior research summaries; 20 variants are listed here, all scored at a uniform evidence magnitude of 4.50, meaning no single listed variant ranks higher than the others based on combined effect size and evidence strength. The trait labels are consistent with GWAS (genome-wide association study - a method that scans large numbers of people's genomes to find variants statistically linked to a trait) signals rather than clinically established findings. Three variants - rs117835232, rs11970030, and rs12192642 - have published editorial pages, indicating somewhat deeper documentation; however, specific effect sizes, odds ratios, or sample sizes are not available in the current dataset. The breadth of seven labeled trait domains should be interpreted cautiously: cross-phenotype associations at a single locus may reflect pleiotropic biology - one gene influencing multiple traits - or may partly reflect linkage, where nearby variants are inherited together rather than acting as independent causal signals.

What this is NOT

All variants described here are population-level statistical signals from large group studies, not deterministic predictors of any outcome for any individual person. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.