Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune cells and is associated with dose-dependent cardiovascular disease risk in people with impaired glucose tolerance

Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 transcriptional activity via CEBPβ binding, with downstream effects on local estrogen synthesis, bone mineral density, and hormone-sensitive tissue biology

Intergenic PCOS susceptibility locus downstream of PLGRKT (plasminogen receptor); the C allele is the risk allele associated with increased PCOS susceptibility, reduced fibrinolytic capacity, and prothrombotic physiology in affected women

Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in primordial follicle oocytes; the T allele is associated with later age at natural menopause, reflecting better oocyte quality control and preservation of the ovarian reserve over time

Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A allele reduces TRAF1 expression, amplifying NF-kB-driven inflammation and increasing rheumatoid arthritis risk in Europeans

Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a haplotype associated with reduced vitamin D 25-hydroxylase activity and lower circulating 25-hydroxyvitamin D levels

Intronic SCARB1 variant associated with altered HDL-receptor function, subclinical atherosclerosis, and increased coronary heart disease risk

Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval prolongation via altered nNOS-mediated cardiac repolarization; the G allele extends QTc by ~3.6 ms per copy

Common intronic variant in the ST3GAL4 sialyltransferase gene associated with modestly elevated VWF antigen and Factor VIII activity levels; the A allele impairs sialic acid capping of these clotting proteins, slowing their hepatic clearance and raising plasma concentrations

Intronic UCP3 variant associated with skeletal muscle fat oxidation capacity, hand grip strength, and survival in aging populations