Signal-peptide missense variant altering TGF-β1 secretion levels, associated with cardiovascular inflammation, myocardial fibrosis, and coronary heart disease risk

Second independent FOXO3 longevity signal tagging a distinct intronic haplotype block with centenarian enrichment across Caucasian populations

Rare pathogenic missense variant in the myosin essential light chain causing hypertrophic cardiomyopathy with high penetrance in affected families

Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers are asymptomatic, while biallelic carriers develop VLCAD deficiency—a fatty acid oxidation disorder with phenotypes ranging from neonatal cardiomyopathy to exercise-induced rhabdomyolysis

ADH1B*3 variant encoding a superactive alcohol dehydrogenase found almost exclusively in people of African descent, providing strong independent protection against alcoholism by accelerating the conversion of ethanol to acetaldehyde

Near-gene regulatory variant that reduces MUC1 mucin expression on the gastric epithelium, impairing mucosal barrier defense and increasing susceptibility to diffuse-type gastric cancer

Missense variant in the ABCG2 transporter that impairs membrane localization and alters efflux of drugs, porphyrins, and urate, with the T allele associated with altered antiretroviral drug handling and reduced transporter activity in some cell models

Promoter variant that increases SLC28A2/CNT2 transcription via enhanced HNF1 binding, affecting nucleoside analog drug transport in liver and kidney

Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene associated with rheumatoid arthritis, multiple sclerosis, and altered neutrophil and white blood cell counts, likely acting as a regulatory variant that modulates CD226 expression in immune cells

Intronic eQTL in CNR2 (cannabinoid receptor 2) that modulates receptor expression on immune cells; the minor A allele is associated with reduced CB2 expression, potentially impairing endocannabinoid-mediated immune regulation