3' UTR variant in the ELOVL2 elongase gene that reduces DHA synthesis from its precursor DPA, lowering baseline plasma DHA in C-allele carriers

Missense variant in MTTP (microsomal triglyceride transfer protein) at residue 128; the C allele (Thr128) is associated with reduced hepatic steatosis and lower LDL-cholesterol through a complex, incompletely characterized effect on triglyceride transfer activity

Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; homozygous carriers develop Leigh syndrome, a severe infantile encephalopathy; heterozygous carriers are unaffected but carry a reproductive risk, particularly in Ashkenazi Jewish families

Angiotensinogen level variant affecting blood pressure, sodium sensitivity, and cardiovascular adaptation to exercise

Regulates expression of the alpha-tocopherol transfer protein, the key determinant of circulating vitamin E levels

Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predisposing to fatty acid oxidation failure and cardiac stress during fasting, illness, or exercise

Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate immune signaling strength, conferring broad infectious disease protection in heterozygous carriers

3' UTR variant in SCARB1 that tags a haplotype with reduced SR-BI expression in the liver, lowering HDL cholesterol and impairing reverse cholesterol transport efficiency

3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increased coronary artery disease risk through altered vascular smooth muscle cell signaling

Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB1*0301-DQA1*0501-DQB1*0201) haplotype; the T allele tracks the highest-risk HLA genotype for type 1 diabetes and is associated with systemic lupus erythematosus, sarcoidosis, and HLA-mediated immune dysregulation relevant to atopic disease