Promoter variant controlling interleukin-6 expression — affects inflammation, exercise recovery, and cardiovascular risk

Intronic CFH variant that tags the complement-risk haplotype; the C allele (common, ~80% in Europeans) marks impaired complement regulation driving AMD and systemic inflammation, while the T allele is protective

Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB — the G allele lowers IL-6 signalling but is less common in long-lived individuals

Missense variant in the master cholesterol transcription factor SREBP-2 that alters the SCAP-binding regulatory domain and is associated with cardiovascular disease risk and altered cholesterol homeostasis.

Autophagy gene variant affecting bacterial clearance in gut epithelial cells, strongly associated with Crohn's disease risk

Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated serum bilirubin and is associated with lower risk of cardiovascular disease and type 2 diabetes through bilirubin's antioxidant actions.

Missense variant in the C2A calcium-binding domain of presynaptic scaffolding protein Piccolo, altering monoamine vesicle release efficiency and modulating HPA axis reactivity — associated with elevated depression risk and altered antidepressant treatment response

Pathogenic beta-myosin heavy chain missense variant causing a hypercontractile sarcomere; heterozygous carriers (CT) have high penetrance for hypertrophic cardiomyopathy and are at significant risk for sudden cardiac death and heart failure

Exon 10 missense variant in the inflammasome regulator pyrin; one of five founder FMF mutations, associated with moderate disease severity, high colchicine responsiveness, and lower amyloidosis risk compared to M694V — most clinically significant when homozygous or compound heterozygous with M694V

Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, HDL cholesterol, and adiponectin levels; the A allele is protective