Intronic CDHR3 variant in high linkage disequilibrium with the C529Y functional variant (rs6967330), tagging elevated rhinovirus C receptor activity and increased susceptibility to rhinovirus-induced wheezing and childhood asthma exacerbations

Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13.4, associated with earlier age at natural menopause and reduced ovarian reserve; T allele carriers have lower AMH levels and accelerated follicle depletion.

Intronic regulatory variant that increases DAB2 expression in kidney tubules, amplifying TGF-β-driven fibrosis and raising chronic kidney disease risk

Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitive reduction in fatty acid oxidation capacity; homozygous individuals retain substantial residual activity and are likely asymptomatic, but compound heterozygotes pairing this allele with a more severe ACADM variant are at risk for MCAD deficiency

Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter, causing autosomal recessive acrodermatitis enteropathica — a treatable zinc malabsorption disorder

Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, causing renal hypouricemia type 1 with very low serum uric acid and risk of exercise-induced acute kidney injury

Pathogenic missense variant in protein S causing autosomal dominant thrombophilia with significantly elevated venous thromboembolic risk

ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing rapid acetaldehyde accumulation, the "Asian flush" response, and strong protection against alcoholism — but elevated esophageal cancer risk in carriers who drink

Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg higher stress-induced blood pressure than A-allele carriers due to reduced sympathetic dampening.

Intronic variant near ALPL associated with increased alkaline phosphatase activity, lowering circulating PLP (the active form of vitamin B6) — those with two G copies have higher ALPL activity and lower plasma B6 levels