Intronic branch-point variant in BANK1 that shifts isoform balance toward full-length protein with intact TIR domain, amplifying TLR-driven B-cell activation and raising risk for SLE and systemic sclerosis

Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1.09) via altered cytokine signaling in the JAK-STAT pathway

Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagulant cofactor function of factor V; clinically significant mainly when co-inherited with Factor V Leiden, where the combination amplifies thrombotic risk 3- to 4-fold beyond Leiden alone

Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflammatory cytokine production capacity

5' UTR variant in the XPA DNA damage recognition gene that modulates nucleotide excision repair capacity, influencing cancer susceptibility and platinum-based chemotherapy response

Missense variant in APOH (beta-2-glycoprotein I) that disrupts the phospholipid-binding domain, reducing the protein's capacity to act as an autoantigen in antiphospholipid syndrome

Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygous or compound heterozygous loss causes transient infantile hypertriglyceridemia with hepatomegaly and fatty liver

Triallelic missense variant in the P-glycoprotein efflux pump that reduces the transporter's ability to expel xenobiotics — including environmental toxicants such as pesticides, heavy metals, and endocrine disruptors — from gamete-forming cells, potentially increasing DNA damage susceptibility in oocytes and spermatocytes

Vitamin D receptor start codon variant — determines receptor protein length and transcriptional activity

Intronic variant near the KLK4 enamel-maturation protease gene associated with increased dental caries susceptibility in primary and permanent dentition