3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA targeting, modulating IL-17A protein output and Th17-driven inflammatory disease susceptibility

Pathogenic missense variant in the C3 domain of cardiac myosin-binding protein C replacing arginine with tryptophan at position 502, disrupting sarcomeric protein-protein interactions and causing hypertrophic cardiomyopathy through an autosomal dominant mechanism.

Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antiviral interferon responses and increasing susceptibility to several viral infections

A 2-bp frameshift deletion in FMO3 that creates a premature stop codon at position 197, completely abolishing the enzyme's ability to convert trimethylamine (TMA) to odorless TMAO — the primary genetic cause of trimethylaminuria (fish odor syndrome) in East Asian populations.

Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of MICA; the A allele tags HLA-B*27:05 and related European HLA-B27 subtypes with 98% sensitivity and 99% specificity, serving as a genetic proxy for HLA-B27 status and enabling contextualization of ERAP1 × HLA-B27 epistasis in ankylosing spondylitis risk

Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor protein in hypothalamic leptin and insulin signaling; A allele is associated with increased BMI and metabolic risk in large GWAS studies

IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the A allele is associated with reduced IL-1β promoter activity, potentially lowering the chronic peritoneal inflammatory load implicated in endometriosis pathogenesis

3' UTR variant in the endothelin receptor type A gene associated with ambulatory blood pressure variation and cardiovascular outcomes through altered EDNRA expression

Pathogenic missense variant in von Willebrand factor A2 domain adjacent to the ADAMTS13 cleavage site; the Asp substitution renders VWF hypersusceptible to proteolysis, depleting high-molecular-weight multimers and causing autosomal dominant type 2A von Willebrand disease with mucocutaneous bleeding

Protective missense variant in complement factor B that reduces alternative pathway C3 convertase formation, lowering AMD risk by roughly half and dampening complement-driven tissue damage