Intronic regulatory variant in FUT6 that alters HNF4α binding and fucosyltransferase expression, influencing intestinal fucosylation and circulating vitamin B12 levels — especially relevant in South Asian populations

Regulatory variant in the RANKL gene affecting bone mineral density and osteoporotic fracture risk

Upstream regulatory variant ~1,616 bp before the IFNG transcription start site that modulates IFN-gamma expression; the G allele (coding C) is associated with reduced Th1-mediated IFN-gamma output, favouring a Th2-skewed immune balance that increases susceptibility to atopic disease, while the A allele (coding T) supports robust STAT4-driven IFN-gamma transcription and a more Th1-balanced immune response.

Folate processing enzyme — reduced stability increases choline need

Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) that reduces DDX39B translation, impairing IL7R exon 6 inclusion and increasing soluble IL7R — the strongest known epistatic interaction in MS genetics

Rare gain-of-function variant causing autosomal dominant metabolic syndrome (AOMS3) — early-onset central obesity, insulin resistance, hypertriglyceridemia, and type 2 diabetes

Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan flux toward quinolinic acid, a neurotoxic NMDA agonist, increasing insomnia risk

Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifies how dietary polyunsaturated fat intake affects LDL and total cholesterol; AA homozygotes consuming high-PUFA diets show markedly elevated LDL-cholesterol.

Promoter variant reducing NRF2 transcriptional activity by >50%, impairing the master antioxidant response that controls glutathione synthesis, phase II detoxification, and cytoprotective gene expression

Intergenic GWAS tag SNP near the BCO1 pathway, associated with circulating beta-carotene and retinol levels independently of the functional BCO1 coding variants