Common ADAMTS13 missense variant substituting glutamate for glutamine at position 448; the G allele acts as a context-dependent modifier of ADAMTS13 enzyme function and is associated with higher rates of atrial fibrillation and cerebral ischemic events in coronary syndrome patients

Intronic variant in POLG (mitochondrial DNA polymerase gamma) on chromosome 15q26.1; the G allele is associated with earlier natural menopause by approximately 9–10 weeks per allele, implicated through mitochondrial DNA replication fidelity and oocyte energy metabolism

Synonymous variant in CYP1A2 exon 7 in linkage disequilibrium with the *1F high-inducibility haplotype; carriers activate more heterocyclic amines and PAHs from cooked meat and smoke into DNA-damaging intermediates

Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most replicated blood pressure GWAS hits; the common A allele reduces calcium efflux efficiency in vascular cells, raising blood pressure ~1 mmHg per allele

FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase expression and confers risk for the broadest autoimmune disease spectrum of any BLK locus SNP, including SLE, RA, SSc, primary Sjögren's syndrome, APS, myositis, and Kawasaki disease

3'UTR variant that creates a microRNA-4271 binding site; the T allele suppresses APOC3 translation, lowering triglycerides and modestly reducing coronary heart disease risk

Alters vitamin D binding protein affinity, affecting total and bioavailable 25-hydroxyvitamin D levels

Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 study; minor A allele promotes hepatic glycogen accumulation, elevating liver enzymes and raising the risk of hepatic glycogenosis, non-alcoholic fatty liver disease, and gallstones

Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

Primary tag SNP at the HHEX/IDE locus on chromosome 10q23, one of the earliest and most replicated T2D GWAS hits, linked to reduced HHEX expression, impaired beta-cell development, and blunted first-phase insulin secretion