Regulatory variant at the SLC26A3 locus associated with ulcerative colitis susceptibility — SLC26A3 encodes the DRA chloride/bicarbonate antiporter essential for intestinal epithelial barrier function and mucosal immune homeostasis

Intronic variant in the IL-23 receptor gene associated with increased risk of psoriasis, psoriatic arthritis, Crohn's disease, and ankylosing spondylitis through altered IL-23 signaling and Th17 cell activation

Missense variant in complement C3 increasing risk of age-related macular degeneration through enhanced complement activation

Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; the G allele is associated with impaired tumor-suppressive Fas-mediated apoptosis and elevated squamous cell carcinoma risk

Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH level modulation; the C allele tags a GWAS-identified risk haplotype that elevates basal FSH and increases PCOS risk, while the T allele is protective and associated with normal FSH levels

Intronic variant in SLC30A1 (ZnT1), the primary plasma-membrane zinc efflux transporter; the minor A allele may influence transporter expression and has been associated with modestly altered intracellular zinc homeostasis relevant to immune signaling, erythropoiesis, and cellular antioxidant capacity

Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA expression and marks the risk haplotype block associated with lupus, systemic sclerosis, and Sjögren syndrome

3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that disrupts a microRNA-binding site, increasing ITGB3 expression and platelet activation; the G allele is associated with elevated risk of ischemic stroke outcomes and adverse events on antiplatelet therapy through synergistic platelet receptor gene interactions

Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosome 20p12.3; each A allele is associated with approximately 0.5 years of delayed age at natural menopause, suggesting that reduced MCM8-mediated DNA repair activity modestly accelerates ovarian follicle depletion in people carrying the common T allele

Intronic variant in the aromatase gene associated with lower circulating estradiol and higher FSH levels; the A allele reduces aromatase activity and has been linked to higher sperm counts in men and lower bone mineral density