An FTO intron-8 variant in the same haplotype block as rs1420318, with emerging associations with bone mineral density and alcohol dependence susceptibility; distinct from the primary intron-1 obesity cluster

Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metabolism and T3/T4 ratio

Missense variant in the PARP1 catalytic domain that reduces enzymatic activity by ~40%, impairing DNA single-strand break repair and altering NAD+ consumption dynamics

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