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Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anticoagulation
TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing insulin signaling across liver, muscle, and pancreatic beta cells, with associated risk for insulin resistance and type 2 diabetes
Functional promoter variant that increases iNOS transcriptional activity up to 5-fold, raising nitric oxide output and nitrosative stress; forms a risk haplotype with the gain-of-function coding variant rs2297518
APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising plasma triglycerides and NAFLD risk
Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan flux toward quinolinic acid, a neurotoxic NMDA agonist, increasing insomnia risk
Coding variant replacing isoleucine with serine at TLR1 position 602, disrupting a transmembrane trafficking motif and preventing TLR1 from reaching the cell surface — reducing TLR1/TLR2 heterodimer signaling in response to bacterial triacylated lipopeptides
Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes carry ~24% higher plasma vitamin C levels than AA homozygotes
X-linked monoamine oxidase A variant affecting enzyme activity and neurotransmitter breakdown
Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell motility protein expression in thymic and peripheral immune cells, with GWAS associations with celiac disease, primary biliary cholangitis, and inflammatory bowel disease
Angiotensinogen level variant affecting blood pressure, sodium sensitivity, and cardiovascular adaptation to exercise