ADK, variants, traits, and what the research shows

ADK - what this gene does

Variants catalogued in this gene are predominantly associated with rare disease trait classifications, making it a subject of interest in rare disease genomics research.

Key takeaways

• Multiple high-magnitude variants in this gene are flagged across rare disease genomic databases
• Seven variants each carry a magnitude score of 5.50 - the highest tier on file for this gene
• A further five variants are rated at magnitude 5.00, all also linked to rare disease
• 124 variants are on file in total, with 22 carrying prior research summaries
• These are population-level signals and do not predict individual disease outcomes

Notable variants

The highest-ranked variants by magnitude are rs1194483230, rs142477111, rs2547866979, rs397514452, rs397514453, rs397514454, and rs786205458, all carrying a magnitude score of 5.50 and all associated with the rare disease trait category. A second cluster - rs1589286482, rs1589387419, rs1855118837, rs2548024083, and rs771117099 - sits at magnitude 5.00 and shares the same rare disease trait link. One additional variant, rs117107974 at magnitude 4.50, has an existing published entry in this database.

Trait associations

The dominant trait theme across the highest-magnitude variants in this gene is rare disease. This classification applies to all seven magnitude-5.50 entries and all five magnitude-5.00 entries, as well as several magnitude-3.00 variants including rs1036870011, rs1203540701, rs1219524919, and rs1271395440. The consistent recurrence of the rare disease category across more than a dozen distinct variant entries - spanning multiple magnitude tiers - reinforces that this gene is a point of repeated interest in rare disease genomic research, though specific disease names and mechanisms are not detailed in the current dataset.

Evidence quality

The dataset lists 124 variants on file with 22 carrying prior research summaries; the trait metadata available here covers rare disease as the sole documented theme. The top-tier variants (magnitude 5.50 and 5.00) represent the highest-priority signals in the current dataset. However, no effect sizes such as odds ratios or beta coefficients, no sample sizes, and no study-level details are included in the source data on this page, which substantially limits interpretation. Readers should treat these entries as curated pointers to primary literature rather than standalone clinical evidence, and should consult the individual rsid pages for any available study-level detail.

What this is NOT

These variants are population-level statistical signals catalogued from genomic databases - not deterministic predictors of disease for any individual. Nothing here constitutes a prescription, diagnosis, recommendation, or medical advice of any kind.