DOCK1, variants, traits, and what the research shows

DOCK1 - what this gene does

DOCK1 is a human gene whose catalogued variants span three broad trait categories: rare disease conditions, cancer, and metabolic traits. The research landscape for this gene is wide, with 168 variants on file, and the highest-magnitude signals cluster around rare disease associations.

Key takeaways

• Two of the highest-magnitude variants in this gene carry rare disease associations
• Three separate variants are linked to cancer in research databases
• One variant is associated with metabolic traits
• Most catalogued variants carry no specific trait label in the current dataset
• These are population-level research signals, not individual diagnostic markers

Notable variants

The strongest signals in this gene come from rs1466192762 (magnitude 5.50, rare disease category) and rs767858333 (magnitude 5.00, rare disease category). Three variants share the next tier at magnitude 4.50 with cancer associations: rs2766040, rs9418663, and rs9794744. A metabolic-tagged variant, rs113847670, also sits at magnitude 4.50, as does the rare disease entry rs6482886. Several additional variants at magnitude 4.50 - rs4751006, rs71490795, and rs76283009 - carry no trait annotation in the current dataset.

Trait associations

Rare disease is the most recurrent theme across the highest-magnitude entries. rs1466192762, rs767858333, rs6482886, and rs1288540444 all carry rare disease tags, with the two top-ranked variants scoring above 5.0 - a level that typically reflects either a large effect size, strong evidence, or both. Cancer associations appear across three variants at the same magnitude tier: rs2766040, rs9418663, and rs9794744. The convergence of three variants on the cancer trait category within the same gene is notable, though whether these represent independent signals or correlated variants would require further investigation beyond what the current dataset provides. The metabolic trait link rests on a single entry, rs113847670, and should be treated as a preliminary finding until replication in independent cohorts is established. The majority of the 168 catalogued variants have no trait annotation at this time.

Evidence quality

The dataset covers 168 variants, with 18 carrying prior research summaries. The two highest-magnitude entries - rs1466192762 at 5.50 and rs767858333 at 5.00 - are tagged as rare disease but lack detailed published effect sizes or sample-size data in the current source material. The three cancer-tagged variants cluster at magnitude 4.50, which may suggest moderate and comparable effect sizes, but specific odds ratios (a measure of relative risk in a population study) and cohort sizes are not available here. The metabolic association rests on a single variant and has not been confirmed across multiple independent cohorts based on available data. Most lower-magnitude entries at magnitude 3.00 carry no trait labels, limiting interpretation. Readers should treat all associations here as hypothesis-generating rather than clinically established findings.

What this is NOT

These variants are population-level statistical signals derived from genome-wide research, not deterministic predictors of disease for any individual. This content is provided for informational and educational purposes only; nothing here constitutes medical advice, a diagnosis, or a recommendation for action.