Intronic variant affecting cortical bone thickness, bone mineral density, and fracture risk

Intronic PLG variant (intron 1) whose C allele is enriched in Europeans and appears in cardiovascular GWAS signals at the PLG/LPA locus; PLG encodes plasminogen, the serine-protease zymogen central to fibrinolysis, macrophage recruitment, and innate mucosal immunity

Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production and is associated with NAFLD risk, iron loading parameters, and age-related macular degeneration in subgroup analyses

Second intronic enhancer variant in SMAD3 that modulates TGF-beta effector signaling in regulatory T cells, influencing susceptibility to autoimmune and inflammatory conditions including IBD

Promoter variant affecting brain serotonin synthesis enzyme; influences emotional reactivity, anxiety, and depression risk

Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tissue via FOXA binding; the A allele reduces BCAR1 levels and is associated with lower carotid intima-media thickness progression and reduced coronary artery disease risk, with the protective effect strongest in women

The most common and clinically severe MEFV mutation, converting methionine to valine at codon 694 of pyrin; homozygous carriers typically develop full familial Mediterranean fever with early onset, frequent attacks, and high amyloidosis risk if untreated with colchicine

Nonsense mutation creating a premature stop codon in von Willebrand factor; null allele associated with von Willebrand disease

Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with moderate-to-severe endometriosis risk; the C allele increases risk (OR 1.21)

Regulatory variant upstream of NFKBIA that specifically elevates risk of psoriatic arthritis over skin-only psoriasis, with a 3.2-fold odds ratio distinguishing arthritic from cutaneous-only disease in psoriasis patients