Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodium channel ubiquitination and blood pressure regulation

Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allele produces a truncated, receptor-blind IL-33 protein that halves eosinophil counts and cuts asthma risk by more than half

Intronic CADM2 variant genome-wide significant for information processing speed; the C allele is associated with slower reaction time and cognitive throughput, while T carriers show faster symbol-digit substitution performance

Intronic tag SNP at the 12q24 locus that captures SH2B3/LNK regulatory variation, increasing risk for type 1 diabetes, juvenile idiopathic arthritis, and other autoimmune diseases; also associated with modest effects on lipid levels and serum urate

Slow acetylator variant affecting Phase II detoxification capacity

Promoter variant that increases resistin expression via Sp1/Sp3 transcription factor binding, elevating circulating resistin and promoting insulin resistance and inflammation

Intronic CYP2C8 variant linked to altered enzyme expression and associated with bisphosphonate-related jaw complications and clopidogrel response

Missense variant in the AGER pattern-recognition receptor that reduces soluble RAGE shedding, amplifying inflammatory signaling via NF-κB and AGE pathway activation; associated with lung disease, diabetic complications, and modulated neuroinflammatory risk

Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing the conversion of EPA to DPA and DPA to DHA, and increasing responsiveness to omega-3 supplementation

Intronic PPARD variant that impairs aerobic fitness gains and body composition improvement with training; G-allele carriers show reduced mitochondrial function and smaller muscle volume increases with exercise