Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recognition and dampening inflammatory responses

Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allele reduces SMAD3 enhancer activity in arterial smooth muscle cells, lowering TGF-beta-driven vascular remodeling and coronary artery disease risk

Upstream regulatory variant near TCN2 associated with reduced holotranscobalamin levels — the bioactive fraction of circulating vitamin B12 available for cellular uptake

Intronic eQTL in CHRNA5 that modulates alpha-5 nicotinic receptor mRNA expression levels, forming an independent risk signal for nicotine dependence and lung cancer distinct from the Asp398Asn coding variant (rs16969968)

Pathogenic missense variant in the VWF propeptide D2 domain that introduces an aberrant N-glycosylation site, disrupting VWF multimerization and Weibel-Palade body storage; heterozygous carriers have type 2A von Willebrand disease with qualitative VWF deficiency and variable bleeding risk

Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expression, increasing susceptibility to ulcerative colitis and modifying colorectal cancer and cardiovascular risk

Activin A signaling variant near INHBA linking adipocyte dysfunction to shared migraine and type 2 diabetes risk

Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lysinuric protein intolerance, a recessive disorder of dibasic amino acid transport with hyperammonemia, protein aversion, and multi-organ complications.

Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS with elevated risk of endometriosis, particularly moderate-to-severe (stage III/IV) disease, and with uterine fibroid susceptibility through disrupted Wnt signaling in the endometrium.

Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-tags haplotypes associated with altered A20 expression and susceptibility to multiple autoimmune and inflammatory conditions