Missense variant that reduces IL-17F bioactivity and acts as a natural IL-17F antagonist, protecting against Th17-driven autoimmune conditions while impairing antifungal mucosal defense

Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predisposing to fatty acid oxidation failure and cardiac stress during fasting, illness, or exercise

Upstream regulatory variant near MC4R that may create a transcription factor binding site, with emerging evidence linking the A allele to greater weight gain during clozapine treatment

Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthesis capacity; the A allele associates with endothelial dysfunction, oxidative stress, and impaired nitric oxide production

Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls neuronal clusterin expression; the protective T allele elevates CLU transcription, reducing Alzheimer's disease risk

Promoter variant that selectively increases IL-13 expression in Th2 lymphocytes, amplifying the central Th2 cytokine driving asthma, atopic dermatitis, elevated total IgE, and mucus hypersecretion; the T allele creates a Yin-Yang 1 binding site that attenuates STAT6-mediated repression of IL-13 transcription

Phase II detoxification - acetylation of aromatic amines and certain medications

Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress from ethanol and procarcinogen metabolism

Missense variant that impairs PAX4's ability to repress insulin and glucagon promoters, reducing beta-cell mass and insulin secretion capacity; strongly associated with type 2 diabetes and younger age of onset in East and Southeast Asian populations

Intronic LPL variant associated with altered triglyceride clearance and HDL levels; the minor A allele is linked to lower HDL cholesterol and elevated coronary artery disease risk