Upstream regulatory variant near ETV7, an interferon-inducible transcriptional repressor; the common C allele is associated with moderately increased rheumatoid arthritis risk, while the rare A allele is protective

Intronic variant in SRD5A2 tagging haplotype backgrounds that differ in 5-alpha-reductase type 2 activity; associated with sperm motility differences in normozoospermic men

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

Pathogenic in-frame 3-bp deletion in the KCNQ1 potassium channel that removes phenylalanine-340 from the S6 transmembrane domain, impairing cardiac repolarization and causing Long QT syndrome type 1 with risk of torsades de pointes and sudden cardiac death

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