Upstream promoter variant that reduces ADIPOQ transcription, lowering circulating adiponectin and increasing risk of type 2 diabetes under additive and dominant models

Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides, LDL, and total cholesterol, and increases NAFLD risk

Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces aminopeptidase activity; the T allele tags the low-activity Hap10 haplotype, which is protective against ankylosing spondylitis but recessively increases Behçet's disease risk — especially in HLA-B*51 carriers

Intronic VEGFC variant independently associated with reduced diabetic retinopathy and diabetic macular edema risk; the protective T allele modulates VEGF-C-driven pathological retinal neovascularization

An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T allele is associated with PCOS susceptibility (genome-wide significant in a 2018 meta-analysis of 10,074 cases) and with polycystic ovarian morphology

Missense variant disrupting mannose-binding lectin oligomerization, reducing serum MBL 5-10-fold and impairing complement-mediated opsonization of bacteria, viruses, and fungi

Promoter variant increasing TNF-alpha production approximately 2-fold, associated with autoimmune diseases and anti-TNF drug response

CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, raising HDL cholesterol by ~3–6 mg/dL in A allele carriers

Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R haplotype studies; appears in a large BMI GWAS at p=1×10⁻²⁶ through LD with the MC4R locus, with no independent obesity association established in direct association studies

Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β transcription factor binding, increases AGT expression, and raises blood pressure by 12–13 mmHg in transgenic models