Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags an IKBKE haplotype associated with increased SLE susceptibility through dysregulated type I interferon signaling, and has been implicated in antiviral innate immunity

Intronic variant reducing SLC6A15 expression in hippocampus; AA carriers show increased susceptibility to major depression and hyperactive HPA stress responses

Upstream promoter variant (~1147 bp 5' of CTLA4) tagging an autoimmune-associated haplotype block that influences T-cell checkpoint gene expression and susceptibility to lupus, Graves' ophthalmopathy, RA, and ANCA-associated vasculitis

Missense variant in the MCM8 DNA repair helicase associated with ovarian reserve and age at natural menopause; the A allele is linked to higher AMH levels and later menopause onset.

Intronic LIPC variant associated with circulating DHA and omega-3 fatty acid levels via hepatic lipase-mediated LPC-DHA generation

Promoter polymorphism affecting MMP1 expression and collagen degradation rate, influencing photoaging severity and UV-induced skin damage

Low-penetrance variant in von Willebrand factor that causes enhanced protein clearance; carriers have a 78-fold higher odds of reduced VWF antigen levels and elevated risk of mild bleeding, though only ~24% of heterozygotes have measurably low VWF

Missense variant disrupting mannose-binding lectin oligomerization, reducing serum MBL 5-10-fold and impairing complement-mediated opsonization of bacteria, viruses, and fungi

TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha production by ~31% and influencing susceptibility to autoimmune disease and biologic treatment response

Third HFE variant associated with hemochromatosis; mildly impairs iron regulation and raises transferrin saturation when coinherited with C282Y or H63D