Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele increases SIRT3 expression and is linked to longevity in women

Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medium-chain acyl-CoA dehydrogenase (MCAD) deficiency when inherited in biallelic form — resulting in impaired oxidation of medium-chain fatty acids and risk of hypoketotic hypoglycemia during fasting or illness

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing acrodermatitis enteropathica in homozygotes and obligate carrier status in heterozygotes

Nonsense mutation in APOB creating a premature stop codon at position 1333, truncating apolipoprotein B-100 to ~30% of its normal length and causing familial hypobetalipoproteinemia with very low LDL cholesterol; pathogenic for FHBL

Pathogenic nonsense variant in protein S that eliminates the anticoagulant cofactor through a premature stop codon, causing autosomal dominant hereditary protein S deficiency and a markedly elevated lifetime risk of venous thromboembolism

Splice-region synonymous variant in the innate antiviral gene IFITM3; the G allele (C on coding strand) reduces antiviral protein activity and is strongly associated with severe influenza, COVID-19, and other enveloped virus infections.

Missense variant in the LH/hCG receptor producing a gain-of-function increase in receptor sensitivity, influencing ovarian stimulation response, IVF outcomes, and gonadotropin-dependent signaling

Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is associated with lower serum uric acid levels and reduced gout risk

Intronic variant in SLC12A5 reducing KCC2 potassium-chloride cotransporter function, shifting GABA signaling from inhibitory to excitatory and increasing risk for depression and anxiety

Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may influence their regulation; carrying the A allele is associated with increased risk of endometriosis, particularly moderate-to-severe disease