Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of MICA; the A allele tags HLA-B*27:05 and related European HLA-B27 subtypes with 98% sensitivity and 99% specificity, serving as a genetic proxy for HLA-B27 status and enabling contextualization of ERAP1 × HLA-B27 epistasis in ankylosing spondylitis risk

IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the A allele is associated with reduced IL-1β promoter activity, potentially lowering the chronic peritoneal inflammatory load implicated in endometriosis pathogenesis

An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chromosome 11q14.2; the G allele is associated with higher serum FSH levels in a dose-responsive pattern (AA 9.0, AG 9.5, GG 10.7 IU/L) and with PCOS susceptibility

Alpha-adducin missense variant that increases renal tubular sodium reabsorption by stabilizing Na+/K+-ATPase at the cell surface, causing salt-sensitive blood pressure elevation and impaired endothelial vasodilation in Trp allele carriers

Intronic APOB variant where the A allele (plus strand) is associated with approximately 2-fold increased bile duct cancer risk in men; the G allele is common in East Asian populations and carries no elevated biliary risk

Missense variant in the VWF A2 domain that destabilizes the protein and increases ADAMTS13 cleavage, causing loss of high-molecular-weight multimers and von Willebrand disease type 2A with mucocutaneous bleeding

Nonsense variant eliminating filaggrin protein, the major genetic risk factor for atopic dermatitis and the atopic march from eczema to asthma and food allergy

Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequilibrium (r²=0.95) with rs1866813, a remote cis-regulatory variant that increases NCK1 expression in glomerular podocytes, elevating risk of diabetic nephropathy in type 1 diabetes patients

Intronic PXK variant; the G allele is a replicated GWAS risk allele for systemic lupus erythematosus in Europeans, acting through impaired receptor endocytosis and disrupted B-cell immune signalling

Adipose tissue vascularization variant near VEGFA influencing fat distribution, insulin resistance, and waist-to-hip ratio with strong female-specific effects