Intronic variant in SLC17A3, encoding the renal apical urate efflux transporter NPT4; the A allele is associated with reduced urate secretory capacity, raising serum uric acid and increasing gout risk

Missense variant in the keratinocyte NF-κB scaffold protein CARD14 that modestly elevates psoriasis susceptibility and strongly predicts favorable response to anti-TNF biologic therapy (adalimumab, etanercept, infliximab)

Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier status relevant for reproductive counseling and newborn screening awareness

Missense variant in the concentrative nucleoside transporter 2 (CNT2) gene that increases intestinal ribavirin absorption, raising serum drug levels and doubling the risk of ribavirin-induced hemolytic anemia during hepatitis C treatment; also modulates purine nucleoside bioavailability in liver and gut

Intronic LIPC variant tagging reduced hepatic lipase expression; G allele associated with elevated HDL cholesterol and lower risk of age-related macular degeneration

Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic expression of the TSH receptor, allowing autoreactive T cells to escape tolerance and increasing susceptibility to Graves' disease — the most common autoimmune cause of hyperthyroidism

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

Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed thrombin inhibition, causing type II reactive-site antithrombin deficiency and approximately 10-fold increased venous thromboembolism risk

Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing severe FXI deficiency (hemophilia C) in homozygotes and partial deficiency in heterozygotes; associated with surgical bleeding risk at mucosal sites and, paradoxically, reduced ischemic stroke and DVT risk

Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the C allele associates with lower mean corpuscular hemoglobin, altered plateletcrit, elevated reticulocyte count, and minor PR interval prolongation