Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated with increased risk of ankylosing spondylitis, Behçet's disease, and Crohn's disease through IL-23 pathway dysregulation

Intronic variant affecting aggrecan expression and cartilage integrity, associated with ACL injury risk and intervertebral disc health

Intronic IL6 variant tagging a low-producing haplotype — the T allele is protective against inflammaging, diabetic nephropathy, and severe acute inflammation

Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sarcoplasmic reticulum coupling and impairs calcium-induced calcium release, causing hypertrophic cardiomyopathy

Intronic ALOX5AP variant tagging the HapB risk haplotype; the A allele marks a distinct leukotriene pathway activation pattern independently associated with myocardial infarction and ischemic stroke risk

3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, reducing FADS1 desaturase expression by up to 30–60%; the T allele impairs conversion of linoleic acid to arachidonic acid and ALA to EPA, and is independently associated with elevated serum triglycerides.

Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smooth muscle cell behavior, with well-replicated association with coronary artery disease risk

Reduces dopamine D2 receptor density in the striatum, affecting reward processing, reinforcement learning, and addiction susceptibility

Hypothalamic appetite regulator variant linking obesity susceptibility to migraine risk via shared neural pathways

Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF receptor) on chromosome 4q12; the G allele is associated with increased endometriosis risk and is the lead tagging variant for a locus where disease susceptibility tracks with severity of neovascularization in ectopic lesions