Intergenic regulatory variant at 6q23 near TNFAIP3 whose T allele is protective against rheumatoid arthritis in Europeans, representing the second independent RA signal at this locus alongside risk variant rs6920220

Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk in Asian populations

BANK1 scaffold protein missense variant that shifts B-cell receptor signaling toward hyperactivation, increasing risk for systemic lupus erythematosus and other B-cell-driven autoimmune diseases

Intronic variant in the histidine-catabolism gene AMDHD1 that influences circulating 25-hydroxyvitamin D levels through a pathway outside classical vitamin D metabolism

Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lowering circulating 25(OH)D independently of rs10741657

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

Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier status relevant for reproductive counseling and newborn screening awareness

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

Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing severe FXI deficiency (hemophilia C) in homozygotes and partial deficiency in heterozygotes; associated with surgical bleeding risk at mucosal sites and, paradoxically, reduced ischemic stroke and DVT risk

Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding and dimerization, conferring moderate-penetrance susceptibility to breast, colorectal, thyroid, prostate, and kidney cancer