Intronic CYP3A4 variant associated with altered drug clearance, affecting metabolism of methadone, cyclosporine, and other CYP3A4 substrates

Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — the major T allele is associated with salt-sensitive blood pressure, higher systolic BP on high-sodium diets, and attenuated plasma renin activity suppression on low-sodium diets; the minor C allele provides partial protection from salt-driven blood pressure excursions.

Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus that influences CDKN2B expression and functional aging; the G allele is protective against physical impairment with age

Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) that reduces transcriptional activity; the T allele lowers hepatic FABP1 expression, altering liver fatty acid uptake and increasing risk of dyslipidemia and impaired hepatic lipid handling

Regulatory variant 54 kb upstream of the aryl hydrocarbon receptor gene; the strongest GWAS signal for habitual caffeine intake, influencing AHR expression, CYP1A2 inducibility, and caffeine clearance capacity

Coding variant replacing serine with proline at TLR6 position 249, altering TLR2/TLR6 heterodimer signaling intensity for diacylated lipopeptides from bacteria and mycoplasma — Pro249 confers stronger NF-κB activation while Ser249 reduces TLR2/TLR6-mediated inflammation, with consequences for leprosy susceptibility, cardiovascular risk, and upper genital tract infections

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

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

Missense variant in the IL-23 receptor that substitutes leucine for proline at position 310; the rare leucine allele (T) is associated with susceptibility to Graves' disease and rheumatoid arthritis through altered IL-23/Th17 immune signaling

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