Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associated with reduced CYP2R1 expression and lower circulating 25-hydroxyvitamin D concentrations

HNMT structural variant - reduces enzyme stability and histamine clearance in tissues

Intronic regulatory variant that reduces ADCY5 expression in pancreatic islets, impairing glucose-stimulated cAMP production and insulin secretion, and raising fasting glucose and type 2 diabetes risk

Intronic variant in IL1RAP that impairs microglial activation, accelerating brain amyloid accumulation and Alzheimer's disease progression independently of APOE status

Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatitis (OR 1.10), asthma, and type 1 diabetes risk — tags a regulatory locus controlling CD25 expression and T-regulatory cell homeostasis

Intronic PPARG variant in a metabolic syndrome–associated haplotype block; the A allele is enriched in people without metabolic syndrome and co-segregates with the protective AGCC haplotype across the PPARG locus

Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism capacity and bisphosphonate-related osteonecrosis of the jaw risk

Nonsense mutation in the LDLR gene creating a premature stop codon at position 408, abolishing LDL receptor production and causing familial hypercholesterolemia with severely elevated LDL cholesterol and early cardiovascular disease risk

Intronic CLOCK variant whose G allele, in a haplotype with rs4864548 A, confers a 1.8-fold increased risk of overweight and obesity and is associated with NAFLD, metabolic syndrome in shiftworkers, and altered food-timing patterns via disrupted circadian energy regulation

Intronic variant in the FADS1 gene cluster that tags a haplotype block controlling delta-5 desaturase activity; the C allele reduces conversion of omega-6 and omega-3 precursors to long-chain PUFAs (AA, EPA) and also increases miR-1908-5p expression, independently lowering LDL cholesterol