Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic recombination enzyme; each copy of the C allele is associated with approximately 10 fewer weeks before natural menopause onset, implicating impaired oocyte DNA repair in accelerated follicle depletion

Upstream regulatory variant in CYP2R1 that tags a haplotype associated with reduced hepatic vitamin D 25-hydroxylation efficiency and lower circulating 25(OH)D levels

Missense variant in the XPD helicase that reduces nucleotide excision repair fidelity, modestly increasing susceptibility to UV-induced and carcinogen-induced DNA damage across multiple cancer types

Common KCNH2 missense variant that alters hERG potassium channel kinetics, shortens cardiac repolarization in homozygotes, and modifies susceptibility to QT-prolonging drugs and arrhythmias

Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expression during enamel maturation and susceptibility to dental caries in primary dentition

Common intronic variant in CACNA1A — the P/Q-type calcium channel gene mutated in familial hemiplegic migraine — that reaches genome-wide significance for migraine with aura; the G (reference) allele confers typical susceptibility while the A allele is mildly protective

Pathogenic glucokinase nonsense variant introducing a premature stop codon that abolishes protein function, causing autosomal dominant maturity-onset diabetes of the young type 2 (MODY2) in heterozygous carriers — the original nonsense mutation in GCK identified in 1992

Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α-hydroxylase/17,20-lyase activity; homozygotes develop the full 17α-hydroxylase deficiency phenotype (hypertension, hypokalemia, absent puberty, low cortisol), while heterozygous carriers are clinically unaffected but carry a CYP17A1 loss-of-function allele relevant to reproductive planning.

Rare pathogenic TTR missense variant causing hereditary transthyretin amyloidosis with predominantly central nervous system and oculoleptomeningeal involvement

Missense variant in the diamine oxidase enzyme that contributes to reduced histamine clearance from dietary sources