Pathogenic missense variant in the copper transporter ATP7B; heterozygous carriers are asymptomatic but can pass Wilson disease to children if their partner also carries an ATP7B pathogenic variant

Intronic variant in PPCDC associated with lower circulating serum zinc levels; the C allele reduces zinc by approximately 0.3 standard deviations and has been used as a genetic instrument in Mendelian randomization studies of zinc and cardiometabolic health.

Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac disease and associated with multiple autoimmune conditions

Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymphoid kinase expression and independently raises risk for systemic lupus erythematosus and related autoimmune diseases

3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availability, influencing how the body responds to levothyroxine therapy and how well inactive T4 is converted to active T3 in tissues

3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that disrupts a microRNA-binding site, increasing ITGB3 expression and platelet activation; the G allele is associated with elevated risk of ischemic stroke outcomes and adverse events on antiplatelet therapy through synergistic platelet receptor gene interactions

Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F high-inducibility haplotype; carriers activate more heterocyclic amines and PAHs from cooked meat and smoke into DNA-damaging intermediates

Synonymous coding variant in the URAT1 renal urate transporter; the C allele is associated with increased urate reabsorption and 27% higher odds of hyperuricemia, completing the URAT1 genetic panel alongside rs505802 (promoter) and rs121907892 (W258X)

3'UTR variant in the ATP-binding cassette transporter A1 gene; the G allele (homozygous GG) is enriched in ischemic stroke patients and associates with lower total cholesterol, suggesting impaired cholesterol efflux capacity may elevate cerebrovascular risk

Intronic variant in the Factor IX gene in near-perfect linkage disequilibrium with the rs6048 missense variant; the C allele tags the same modestly protective haplotype for deep vein thrombosis identified in the Bezemer 2009 GWAS