APOL1 G1 kidney disease risk variant — missense change that evolved for trypanosome resistance but causes nephropathy in the recessive state

Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with altered connective tissue integrity and elevated varicose vein risk.

3'UTR variant in the cannabinoid receptor 1 gene that regulates CB1 expression in the brain and modulates vulnerability to cannabis, alcohol, nicotine, and cocaine dependence, as well as impulsivity and emotional reactivity

Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T allele carriers have lower hepatic UGT1A1 expression, mildly elevated unconjugated bilirubin (Gilbert syndrome spectrum), and altered metabolism of bilirubin, atazanavir, and irinotecan

Promoter-region tag SNP in the ghrelin receptor gene associated with body weight and dietary weight loss response; the T allele is linked to lower body weight and greater weight loss after both dietary intervention and bariatric surgery, likely through LD with nearby functional GHSR promoter variants

Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repair gene; the G allele is associated with increased susceptibility to asthma and atopic disease, while the A allele associates with rheumatoid arthritis risk, implicating RAD51B in shared immune dysregulation across inflammatory conditions

Reduces intestinal folate hydrolase activity, impairing absorption of dietary polyglutamyl folates and lowering circulating folate available for methylation

Missense variant in the C-terminal domain of the P2X7 receptor that disrupts normal receptor dimerisation when coexpressed with the wild-type allele, with the G (Arg460) allele associated with major depressive disorder in a large meta-analysis and with higher multiple sclerosis severity scores; the A (Gln460, low-activity) allele is independently linked to rapid cycling in bipolar disorder

TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing insulin signaling across liver, muscle, and pancreatic beta cells, with associated risk for insulin resistance and type 2 diabetes

Promoter variant affecting CYP3A4 expression, most common in African populations