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

Common intronic variant in the FOG1 megakaryocyte transcription factor gene that modulates platelet count and reactivity through altered GATA-1/FOG1 transcriptional output during thrombopoiesis

Pathogenic glucokinase missense variant that raises the beta-cell glucose sensing threshold, causing lifelong mild fasting hyperglycemia characteristic of MODY2 — a condition that rarely needs treatment but is frequently misdiagnosed as type 1 or type 2 diabetes

Histamine breakdown in blood and tissues - uses methyl groups from SAM