Strongly protective variant against inflammatory bowel disease and other autoimmune conditions through impaired IL-23 signaling

Common leptin receptor variant in the leptin-binding domain affecting satiety signaling and metabolic regulation

Master regulator of cellular oxygen response influencing endurance capacity, training adaptability, and injury resilience in athletes

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