Intronic TCF7L2 depth variant replicated across multiple populations as a secondary type 2 diabetes risk signal, likely tagging a distinct regulatory element that modulates Wnt/TCF7L2-driven proglucagon expression and incretin signaling depth

Intronic IL33 variant where the G allele is negatively associated with asthma (OR 0.71) in a Brazilian mixed-ancestry cohort; the G allele may dampen IL-33 alarmin output from damaged airway epithelium, reducing ILC2 and mast cell activation and blunting type 2 airway inflammation

Intronic CYP2C8 haplotype-tagging variant linked to bisphosphonate-related osteonecrosis of the jaw risk

Intronic variant in the FADS1 gene cluster that reduces delta-5 desaturase activity, impairing conversion of DGLA to arachidonic acid (omega-6) and dietary omega-3 precursors toward EPA, leaving G allele carriers with lower circulating long-chain PUFAs and greater dependence on preformed EPA and DHA

Missense variant in the MMP9 fibronectin type II domain affecting matrix metalloproteinase-9 substrate binding; the A allele (Gln279) is associated with altered plaque remodeling dynamics, increased intracranial atherosclerotic stenosis risk, and higher ischemic stroke susceptibility compared with the Arg279 (G allele) form

Promoter variant that modulates dopamine D4 receptor expression in the prefrontal cortex, influencing novelty seeking and cognitive flexibility

Core circadian clock transcription factor variant affecting mRNA stability, associated with evening preference, delayed sleep onset, and shorter sleep duration

Affects myostatin's ability to limit muscle growth, influencing muscle mass and strength response to training

Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach extreme old age — mediates longevity via reduced insulin/IGF-1 signaling, but its protective effect reverses sharply with obesity

Missense variant in the NOD2 gene that increases Crohn's disease risk, particularly ileal disease, by impairing bacterial peptidoglycan recognition