Common missense variant in the primary intestinal zinc transporter ZIP4; the Val372 allele (C on the plus strand) reduces ZIP4 surface expression and zinc uptake capacity and reached near-fixation in West Africa through positive selection, likely via pathogen-zinc-starvation advantages; the Leu372 form (G allele) is standard in European and Asian populations.

Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansky-Pudlak syndrome type 3 in homozygotes and conferring carrier status in heterozygotes; enriched in the Ashkenazi Jewish population.

3' region variant in the fibrinogen gamma chain gene that shifts the gamma/gamma-prime isoform ratio, altering clot structure and increasing venous thromboembolism risk by 22-37% per allele in multiple large GWAS

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