Missense variant in the GIP incretin hormone that changes its bioactivity and serum stability, with the derived Gly allele showing higher receptor activation and positive selection in Eurasian populations

Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, and cardiovascular disease risk

Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipoprotein C-III, raising triglycerides and VLDL through impaired post-meal suppression of apoCIII secretion

Intronic NR3C1 variant with CC genotype enriched in Polish centenarians; GG genotype associated with elevated total and LDL cholesterol in the oldest-old

Intronic variant affecting cortical bone thickness, bone mineral density, and fracture risk

Pathogenic DSP nonsense variant creating a premature stop codon at position 160 (p.Arg160Ter), causing desmoplakin haploinsufficiency and desmoplakin-associated arrhythmogenic cardiomyopathy with predominantly left ventricular fibrosis

Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to gram-positive bacteria and mycobacteria, increasing susceptibility to tuberculosis, sepsis, and staphylococcal infections

Synonymous variant that reduces SR-BI receptor expression and impairs HDL cholesterol uptake by the liver, lowering HDL-C levels and modestly increasing cardiovascular risk

Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorrin glycosylation and is one of the strongest genetic determinants of circulating vitamin B12 levels

X-linked monoamine oxidase A variant affecting enzyme activity and neurotransmitter breakdown