Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval prolongation via altered nNOS-mediated cardiac repolarization; the G allele extends QTc by ~3.6 ms per copy

Common intronic variant in the ST3GAL4 sialyltransferase gene associated with modestly elevated VWF antigen and Factor VIII activity levels; the A allele impairs sialic acid capping of these clotting proteins, slowing their hepatic clearance and raising plasma concentrations

Intronic UCP3 variant associated with skeletal muscle fat oxidation capacity, hand grip strength, and survival in aging populations

Most common VLCAD deficiency variant in the US, causing mild late-onset disease with exercise-induced rhabdomyolysis and fasting intolerance due to partial loss of mitochondrial fatty acid oxidation

Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus that disrupts a RUNX1 transcription factor binding site, altering PD-1 expression and conferring susceptibility to systemic lupus erythematosus and multiple sclerosis

Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and reduces coronary disease risk by up to 47%

Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G allele (Thr269) is a gain-of-function variant that enhances renal NPT1-mediated urate secretion and lowers gout risk, while the common A allele (Ile269) carries baseline NPT1 activity and higher gout susceptibility

Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, lowering fasting triglycerides and decreasing coronary artery disease risk in carriers of the K40 allele

Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing acrodermatitis enteropathica — a rare autosomal recessive disorder of severe zinc deficiency — when inherited in biallelic form

Pathogenic missense variant in the antithrombin III heparin-binding domain; heterozygous carriers have antithrombin deficiency conferring an approximately 14-fold increased risk of venous thromboembolism