3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk from acetaminophen, isoniazid, ethanol, and occupational solvents

5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, reducing C1-INH expression under immune stress and acting as a severity modifier for complement-mediated inflammatory conditions and sleep disruption

Intronic CD36 variant that reduces CD36 expression, impairing postprandial fat sensing and lipid clearance with dose-dependent effects on circulating sCD36 and LDL particle numbers.

Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt5a-mediated insulin secretion and adipose inflammation

Missense variant in LRP5 that substitutes valine for methionine at position 667, modestly reducing Wnt signaling and lowering bone mineral density — particularly in physically active individuals

Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reticulum coupling and calcium signaling, causing hypertrophic cardiomyopathy with high age-dependent penetrance

Upstream regulatory variant near BCO1 that reduces beta-carotene to vitamin A conversion efficiency by approximately 59%

Regulatory variant upstream of interferon alpha-21 associated with increased susceptibility to herpes zoster (shingles) via reduced type I interferon antiviral signaling

Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile and adult-onset open-angle glaucoma through trabecular meshwork dysfunction and elevated intraocular pressure

Intronic variant near CHRNA3 at 15q25.1 that acts as an eQTL for nicotinic receptor genes and is independently associated with heavy smoking and lung cancer risk