Intronic PPARG variant significantly associated with individual variation in body weight reduction during calorie restriction; G allele also linked to elevated plasma renin activity

Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation and autoimmune disease susceptibility

Promoter variant that elevates baseline C-reactive protein levels, increasing cardiovascular inflammation risk and stroke susceptibility

Intronic variant in LIN28B associated with puberty timing — the C allele may be linked to earlier menarche in females and earlier puberty milestones in males, with implications for reproductive window length and cumulative estrogen exposure

Common perforin variant that reduces cytolytic activity by ~50%, acting as a susceptibility factor for HLH when combined with a second PRF1 loss-of-function allele

Nonsense mutation in argininosuccinate lyase introducing a premature stop codon that abolishes the fourth step of the urea cycle; a founder allele in Arab populations causing argininosuccinic aciduria, the second most common urea cycle disorder — homozygotes develop neonatal hyperammonemia and require lifelong arginine supplementation, protein restriction, and hepatic surveillance

Pathogenic missense variant in the C3 domain of cardiac myosin-binding protein C replacing arginine with tryptophan at position 502, disrupting sarcomeric protein-protein interactions and causing hypertrophic cardiomyopathy through an autosomal dominant mechanism.

Intronic variant in the GPX3/TNIP1 regulatory locus on chromosome 5; the C allele is protective against generalized pustular psoriasis (OR≈0.61 per C allele)

Missense variant in selenoprotein P that alters selenium transport capacity; the T allele (Thr234) is associated with lower circulating SELENOP levels after selenium intake and elevated risk of adverse outcomes in prostate cancer and retinopathy of prematurity

Intergenic variant near caveolin genes affecting primary open-angle glaucoma risk and intraocular pressure regulation