Intronic variant in STAT6 (intron 2) that forms a functional haplotype with rs324011; the T allele increases STAT6 promoter activity and is associated with elevated serum IgE, atopic dermatitis, eczema herpeticum susceptibility, and eosinophilic esophagitis relapse through enhanced Th2 signaling

Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting risk for Parkinson disease, progressive supranuclear palsy, and other tauopathies

Synonymous variant in the tyrosine kinase domain of the insulin receptor; the A risk allele (plus-strand) is associated with PCOS susceptibility and insulin resistance in lean women, possibly through altered mRNA processing near the ATP-binding site of the receptor kinase domain

Nitric oxide production - reduced activity increases cardiovascular risk and oxidative stress

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

Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impaired glucose-stimulated insulin secretion and elevated type 2 diabetes susceptibility

Intronic variant in the adiponectin gene associated with lower circulating adiponectin levels, increased type 2 diabetes susceptibility in overweight individuals, and elevated subclinical cardiovascular risk; the G allele confers reduced adiponectin secretion and higher metabolic syndrome risk

Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is associated with higher HDL cholesterol and lower cardiovascular event risk

Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enzyme production, affecting extracellular matrix remodeling in connective tissue and adipose tissue

Common intron 2 variant in the telomerase gene that influences telomere length, with the C allele associated with longer telomeres and increased cancer risk, while the A allele links to shorter telomeres and higher risk of degenerative diseases