Beta-2 adrenergic receptor variant affecting receptor downregulation, exercise capacity, beta-agonist drug response, and cardiovascular function

Protective missense variant that reduces LPL inhibition, lowering fasting triglycerides in T-allele carriers

3'UTR variant in ABCG1 that may reduce transporter expression, impairing cholesterol efflux to HDL and increasing susceptibility to coronary artery disease.

A common 3'UTR variant in the liver-expressed adiponectin receptor 2 gene; the T allele is associated with reduced waist circumference and lower colorectal and gastric cancer risk, while the reference C allele is linked to higher liver enzyme elevations in type 2 diabetic subjects.

Intronic variant strongly associated with elevated lipoprotein(a) levels and significantly increased risk of coronary artery disease

Missense variant in PRRC2A (HLA-B associated transcript) linked to age at natural menopause through immune-mediated oocyte depletion; the A allele may be associated with earlier menopause onset

Missense variant in circadian clock gene PER3 associated with morning chronotype preference and earlier diurnal timing

3'UTR variant in the beta-defensin 1 gene that disrupts a microRNA binding site, reducing DEFB1 expression and increasing susceptibility to periodontitis

Near-gene regulatory variant tagging an IRF5 haplotype that elevates interferon production and increases risk for lupus, systemic sclerosis, Sjögren syndrome, and rheumatoid arthritis

Nonsense mutation in STAR that abolishes steroidogenic acute regulatory protein function; the most prevalent allele causing lipoid congenital adrenal hyperplasia — homozygotes have near-complete loss of all steroid hormone synthesis