Intronic INSR variant associated with PCOS susceptibility and metabolic syndrome risk through altered insulin receptor signaling

Intronic CYP3A4 variant associated with altered drug clearance, affecting metabolism of methadone, cyclosporine, and other CYP3A4 substrates

Intronic variant in IGFBP3 — the gene encoding the main carrier protein for IGF-1 in circulation — associated with lower circulating IGFBP-3 levels in carriers of the G allele

Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) that reduces transcriptional activity; the T allele lowers hepatic FABP1 expression, altering liver fatty acid uptake and increasing risk of dyslipidemia and impaired hepatic lipid handling

Intronic NR3C1 variant with TT genotype enriched in Polish centenarians; C allele associated with elevated cholesterol in the oldest-old

Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the protein by 1,062 amino acids, disrupting desmosomal junctions in the heart and causing arrhythmogenic cardiomyopathy with left ventricular predominance

Intronic variant in the PGC-1alpha gene linked to population-specific type 2 diabetes risk and mitochondrial biogenesis regulation

Coding variant replacing serine with proline at TLR6 position 249, altering TLR2/TLR6 heterodimer signaling intensity for diacylated lipopeptides from bacteria and mycoplasma — Pro249 confers stronger NF-κB activation while Ser249 reduces TLR2/TLR6-mediated inflammation, with consequences for leprosy susceptibility, cardiovascular risk, and upper genital tract infections

Intronic variant in the SVCT2 tissue vitamin C transporter — associated with differences in plasma vitamin C levels in the EPIC cohort

Intronic variant in the cannabinoid receptor 1 gene that modulates substance dependence vulnerability through a gene-gene interaction with rs806368; the G allele increases risk for drug and alcohol dependence and sits in a completely independent LD block from the rs806368/rs1049353 haplotype