Primary lactate transporter in skeletal muscle — affects lactate clearance during high-intensity exercise and recovery between intervals

Frameshift deletion in coagulation factor XI causing likely-pathogenic partial or severe FXI deficiency (hemophilia C); heterozygous carriers have partial deficiency with variable surgical bleeding risk, homozygotes face severe deficiency with ~60% bleeding rate at high-risk surgical sites

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

Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes hereditary angioedema Type I with recurrent life-threatening swelling attacks

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