Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein; biallelic inheritance causes peroxisomal fatty acid oxidation failure with severe neonatal neurological disease; heterozygous carriers are clinically unaffected but carry reproductive risk

Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating aspartate at position 1113 with glycine in an EGF-like calcium-binding domain, disrupting microfibril assembly and predisposing heterozygous carriers to familial thoracic aortic aneurysm and dissection (FTAAD) and Marfan syndrome

Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk in APOE ε4 carriers by limiting pathological fibronectin accumulation at the blood-brain barrier

Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine

Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the C allele independently increases endometriosis susceptibility, with stronger effects in moderate-to-severe disease stages

Promoter variant affecting IL-1 beta production, influencing inflammatory response and cardiovascular disease risk

Nicotinic receptor variant strongly associated with heavy smoking, nicotine dependence, and increased lung cancer risk

Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expression and activity, impairing conversion of dietary omega-6 and omega-3 precursors to arachidonic acid and EPA respectively; independently associated with plasma triglyceride levels and omega-3/omega-6 fatty acid ratios.

Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T allele reduces circulating CXCL12 chemokine levels and confers protection against coronary artery disease

Promoter variant that alters alpha-2A adrenergic receptor expression, affecting adrenergic suppression of insulin secretion and lipolysis; C allele carriers show greater susceptibility to antipsychotic- and antidepressant-induced weight gain