Synonymous CFH variant in complete LD with rs1410996 that tags the complement-dysregulation haplotype driving age-related macular degeneration; G allele (risk) impairs complement regulation on retinal surfaces

Promoter SNP near 5-HTTLPR that modifies serotonin transporter expression and antidepressant response

Macrophage-stimulating protein variant affecting innate immune response and IBD susceptibility

A rare missense variant that partially reduces TYK2 catalytic activity, conferring strong independent protection against rheumatoid arthritis (OR 0.53) and other autoimmune diseases including SLE

Pathogenic missense variant in the ACAD9 complex I assembly factor causing severe mitochondrial energy failure; the original riboflavin-responsive ACAD9 allele first identified by Gerards et al. 2011, producing hypertrophic cardiomyopathy, exercise intolerance, and lactic acidosis in homozygous or compound heterozygous carriers.

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

Missense variant substituting valine with methionine at position 327 of TLR6, predicted damaging by SIFT and PolyPhen; the Met327 allele is rare globally but reaches 6% in East Asian populations

Intronic STAT3 variant where the T allele (reference, ~66%) increases risk for autoimmune thyroid disease, Crohn's disease, and lung cancer

Intronic variant in TNFSF4 (OX40 ligand); homozygous G carriers show approximately 2-fold increased myocardial infarction risk in some populations

Pathogenic missense variant in biotinidase that abolishes biotin recycling; heterozygous carriers have partial enzyme reduction while homozygotes and compound heterozygotes develop biotinidase deficiency requiring lifelong biotin supplementation