3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that disrupts a microRNA-binding site, increasing ITGB3 expression and platelet activation; the G allele is associated with elevated risk of ischemic stroke outcomes and adverse events on antiplatelet therapy through synergistic platelet receptor gene interactions

Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosome 20p12.3; each A allele is associated with approximately 0.5 years of delayed age at natural menopause, suggesting that reduced MCM8-mediated DNA repair activity modestly accelerates ovarian follicle depletion in people carrying the common T allele

Intronic variant in the aromatase gene associated with lower circulating estradiol and higher FSH levels; the A allele reduces aromatase activity and has been linked to higher sperm counts in men and lower bone mineral density

Base excision repair scaffold protein that coordinates repair of oxidative DNA damage and single-strand breaks; the Gln variant reduces repair efficiency at the PARP-binding domain

SERPINA1 intronic variant strongly associated with elevated mortality in ANCA-associated vasculitis patients; in tight linkage disequilibrium with the regulatory risk variant rs7151526

Intronic variant in the SPAK kinase gene that has been studied for association with blood pressure regulation through the WNK-SPAK-NCC sodium reabsorption axis

Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate transporter locus; the A allele (coding-strand T) is in linkage disequilibrium with known urate-raising haplotypes at SLC2A9 and is associated with modestly elevated serum uric acid through reduced renal urate clearance efficiency; the G allele (coding-strand C) tags the urate-lowering haplotype

Nonsense mutation in the cardiac IKs potassium channel causing premature protein truncation; heterozygous carriers develop Romano-Ward long QT syndrome type 1 with risk of life-threatening arrhythmia, while homozygous carriers develop Jervell and Lange-Nielsen syndrome with congenital deafness

Intronic PPARA variant whose minor G allele has been associated with modest myocardial infarction risk and may influence the gene's anti-inflammatory transcriptional activity in vascular tissue

Synonymous variant in vitamin D binding protein that tags distinct GC haplotypes, contributing to VDBP isoform diversity and influencing immune function, uveitis risk, and vitamin D bioavailability