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

Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression and increases susceptibility to adolescent idiopathic scoliosis; TBX1 is the principal gene responsible for DiGeorge syndrome and governs pharyngeal arch and spinal musculature development

Nonsense mutation in coagulation factor XI creating a premature stop codon, causing severe factor XI deficiency with surgical bleeding risk especially at high-fibrinolysis sites

Intronic variant near IL23A encoding the IL-23 p19 subunit; G allele increases psoriasis and psoriatic arthritis risk through elevated IL-23 signalling and Th17 activation

Synonymous coding variant in transferrin receptor 2 with potential splice-modifying activity, associated with age-related macular degeneration in case-control studies via iron-mediated retinal oxidative stress

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 variant affecting IL-2 receptor alpha chain expression and soluble IL-2RA shedding — impairs T-regulatory cell signaling and increases autoimmune disease susceptibility

Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, where the common C allele is associated with modestly increased rheumatoid arthritis risk across diverse populations

An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ERBB4/HER4 signalling in granulosa cells, impairing intercellular junctions required for normal folliculogenesis and increasing PCOS susceptibility in European women

Lead SNP at the 20p11 locus, the strongest autosomal genetic risk factor for androgenetic alopecia (male pattern baldness), affecting Wnt signaling pathways critical for hair follicle cycling