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

Pathogenic splice acceptor variant in MMAB that abolishes adenosylcobalamin synthesis, causing methylmalonic aciduria cblB type when two loss-of-function alleles are inherited

Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negative feedback, increasing susceptibility to autoimmune and inflammatory diseases

Intronic IL2RA variant that modulates soluble IL-2RA shedding and Treg signaling; independently associated with psoriasis susceptibility and contributes to the IL2RA locus autoimmune risk signal

Intronic variant in the FSH receptor gene; identified in a genome-wide association study as associated with post-radiotherapy erectile dysfunction risk in African-American men; located in close proximity to rs2268361 and serves as an FSHR haplotype tag with potential relevance to gonadotropin signaling