SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk for type 2 diabetes through reduced adiponectin secretion and impaired insulin-mediated lipogenic signalling

Intronic LPL variant associated with altered triglyceride clearance and HDL levels; the minor A allele is linked to lower HDL cholesterol and elevated coronary artery disease risk

Functional promoter variant that increases iNOS transcriptional activity up to 5-fold, raising nitric oxide output and nitrosative stress; forms a risk haplotype with the gain-of-function coding variant rs2297518

Missense variant in WNT16 that substitutes glycine for arginine at position 82, reducing cortical bone mineral density and increasing fracture risk

Nonsense variant in desmoplakin that truncates the protein at codon 550, causing severe haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic cardiomyopathy with predominantly left ventricular fibrosis and high arrhythmic risk

Promoter variant affecting interleukin-8 transcription and inflammatory burden

Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high saturated fat

Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common genetic determinant of circulating vitamin B6 (PLP) levels, acting through alkaline phosphatase-mediated catabolism

Missense variant replacing asparagine with serine at TLR1 position 248 in the extracellular leucine-rich repeat domain — impairing TLR1/TLR2 heterodimer signaling to bacterial triacylated lipopeptides and increasing susceptibility to gram-positive bacterial infections and leprosy

Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clotting proteins), C allele marks non-O types (A, B, AB) with elevated VTE and cardiovascular risk