Intronic variant in LIN28B associated with puberty timing — the C allele may be linked to earlier menarche in females and earlier puberty milestones in males, with implications for reproductive window length and cumulative estrogen exposure

IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype with rs6887695; T allele (coding-strand A, risk) drives 12.5-fold higher IL12B expression and substantially elevated psoriasis susceptibility; G allele is protective and predicts better ustekinumab response

Gain-of-function missense variant in the NLRP3 inflammasome sensor that elevates baseline IL-1beta and IL-18 production, increasing susceptibility to gout, inflammatory bowel disease, and metabolic inflammation

Rare missense variant in the PROC gene encoding protein C; the A allele substitutes histidine for arginine at position 42, partially impairing anticoagulant function and increasing venous thromboembolism risk 3-7 fold in heterozygous carriers

Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A allele tags a protective haplotype associated with more efficient renal urate excretion, while the G allele (population major in East Asians where gout prevalence is highest) tags reduced clearance and elevated serum uric acid — following the same population gradient as other SLC2A9 protective intronic variants

Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with serum TSH levels; each A allele raises TSH by ~0.13 mIU/L through reduced cAMP degradation in thyroid tissue, with consequences for ovulatory function, implantation, and pregnancy maintenance

Intronic variant in CD40 regulating B-cell surface expression; the G allele drives higher CD40 levels and is shared risk across rheumatoid arthritis, SLE, Crohn's disease, and multiple sclerosis

Intronic CTH variant where GG homozygotes show significantly elevated preeclampsia risk; the G allele tags reduced placental H₂S production and impaired vascular adaptation during pregnancy, with no significant association with essential hypertension

Intergenic variant near GJD2 affecting myopia risk and axial eye growth through retinal gap junction signaling

Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte parameters through the hepcidin-regulatory pathway, independently contributing to iron status alongside the rs855791 coding variant