5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, reducing C1-INH expression and acting as a severity modifier for complement-mediated inflammatory conditions

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 leprosy

Missense variant in LRP5 that substitutes valine for methionine at position 667, modestly reducing Wnt signaling and lowering bone mineral density — particularly in physically active individuals

Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevated plasma CXCL12 levels and increased coronary artery disease risk in European GWAS and replication cohorts

Most-studied oxytocin receptor variant, influencing empathy, social sensitivity, stress resilience through social buffering, and emotional regulation

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

Pathogenic missense variant in the VWF propeptide D2 domain that prevents high molecular weight multimer assembly in the Golgi apparatus; homozygous carriers develop von Willebrand disease type 2A with mucocutaneous bleeding, while heterozygotes are typically unaffected

Intronic IL23R variant where the minor T allele is associated with increased ankylosing spondylitis susceptibility

Intronic TERT variant that increases uterine fibroid (leiomyoma) risk

Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNAM-1) that confers risk for multiple autoimmune diseases including type 1 diabetes, multiple sclerosis, SLE, and rheumatoid arthritis