Intronic variant in PPCDC associated with lower circulating serum zinc levels; the C allele reduces zinc by approximately 0.3 standard deviations and has been used as a genetic instrument in Mendelian randomization studies of zinc and cardiometabolic health.

Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB-epsilon protein, leading to heightened NF-κB inflammatory signaling; the G allele is associated with rheumatoid arthritis susceptibility across multiple ancestries

Intronic variant in TSHR intron 1; the C allele increases susceptibility to Graves' disease by altering thyroid-stimulating hormone receptor expression in the thymus, impairing central immune tolerance to TSHR — but notably shows no association with Graves' ophthalmopathy, suggesting variant-specific effects within this regulatory locus

A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a replicated PCOS susceptibility region; the A allele tags coordinated dysregulation of EGF receptor signalling, vesicular trafficking, and androgen co-repression in ovarian theca cells, increasing PCOS susceptibility with additive metabolic risk

Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin and iron status via the hepcidin axis, operating in a separate haplotype block from the well-characterized Ala736Val variant

Regulatory variant upstream of IL12B associated with increased risk of multiple sclerosis, psoriasis, and primary biliary cholangitis through altered IL-12/IL-23 cytokine expression

Promoter variant affecting CD14 expression and LPS receptor signaling — determines innate immune sensitivity to bacterial endotoxin and drives a classic gene-environment interaction with microbial exposure

Intronic NR3C1 variant tagging glucocorticoid receptor gene haplotype blocks associated with cortisol sensitivity, HPA axis reactivity, and downstream effects on reproductive hormone regulation

Missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M von Willebrand disease) — standard VWF panels appear normal while platelet adhesion at injury sites is impaired

Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing anti-inflammatory IL-10 production and raising susceptibility to inflammatory bowel disease, lupus, and Sjögren's syndrome