3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding sites, altering ZnT8 expression in pancreatic beta cells and influencing type 2 diabetes, type 1 diabetes, and gestational diabetes risk

Decreased-function CYP2D6 allele common in African populations, reducing metabolism of antidepressants, antipsychotics, opioids, and tamoxifen

Synonymous variant in CA14 near APH1A; T allele is associated with morning chronotype (OR=1.12) and tags regulatory variation at the gamma-secretase locus, linking circadian preference to APP cleavage biology and Alzheimer's sleep pathology risk

Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma apolipoprotein E and LDL cholesterol — rare G allele carriers have a favorable lipid profile

Intronic ADIPOQ variant that reduces circulating adiponectin levels in G allele carriers, blunting insulin sensitization, fatty acid oxidation, and lipid-lowering response to caloric restriction

Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks complement dysregulation and elevated AMD susceptibility, while the T allele is protective

Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) associated with modestly lower plasma vitamin C levels and increased risk of aggressive periodontitis; the C allele forms part of the Crohn disease risk haplotype at the SLC23A1 locus

Intronic PPARD variant that independently impairs hepatic fat mobilization during lifestyle intervention; C-allele carriers show smaller reductions in liver fat regardless of how much total body fat they lose, linking this locus specifically to ectopic liver lipid regulation rather than general adiposity

Intronic variant in the primary lymphangiogenesis growth factor gene associated with elevated lymphedema risk and impaired lymphatic vascular support

Most common amyloidogenic TTR variant in African Americans, causing late-onset hereditary transthyretin cardiac amyloidosis (hATTR-CM); now treatable with TTR stabilizers