Promoter variant in aldosterone synthase increasing CYP11B2 transcription, associated with elevated aldosterone and higher blood pressure

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers with near-normal zinc absorption

Kozak sequence variant at position −1 of the CD40 start codon — the C allele boosts translational efficiency, producing ~30% more CD40 protein and increasing susceptibility to Graves' disease; the T allele reduces CD40 expression and independently elevates risk for multiple sclerosis and Crohn's disease

Intronic variant creating alternative splice site that increases autoimmune disease risk

Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating a premature stop codon (p.Trp401Ter) that abolishes ZIP4 function and causes autosomal recessive acrodermatitis enteropathica when inherited biallelically; heterozygous carriers retain adequate zinc absorption under normal conditions but warrant monitoring during high-demand states

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

Intronic variant in the OAT4 renal urate transporter that modulates uric acid reabsorption in the proximal tubule, with the C allele raising serum urate and increasing gout risk especially in diuretic users

Intronic DIO2 variant nominally associated with Graves' disease susceptibility and early-onset type 2 diabetes; may influence DIO2 expression in a gene carrying the key T4-to-T3 conversion enzyme

Regulatory variant in the MDM2 promoter that increases Sp1 transcription factor binding, raising MDM2 levels and accelerating p53 degradation — associated with earlier age of cancer onset

Missense variant that impairs platelet-neutrophil binding; carriers of the Q154 (A) allele have ~15–30% reduced VTE risk