{"count":12,"genes":[{"symbol":"MTHFR","name":"5,10-Methylenetetrahydrofolate reductase","category":"nutrigenomics","summary":"MTHFR encodes the enzyme that converts dietary folate into its biologically active form, 5-methyltetrahydrofolate. Two common variants, C677T (rs1801133) and A1298C (rs1801131), reduce enzyme activity. Carrying either variant is common and, with adequate dietary folate, almost always clinically silent.","url":"https://deepdna.ai/api/v1/genes/MTHFR"},{"symbol":"COMT","name":"Catechol-O-methyltransferase","category":"nutrigenomics","summary":"COMT encodes the enzyme that methylates and inactivates catecholamines (dopamine, epinephrine and norepinephrine) and is the main route for clearing dopamine in the prefrontal cortex. The Val158Met variant (rs4680), sometimes called the warrior/worrier SNP, changes enzyme activity roughly four-fold between genotypes. The biology is real, but the popular-science framing is oversimplified and the effects on behaviour are small.","url":"https://deepdna.ai/api/v1/genes/COMT"},{"symbol":"CYP2D6","name":"Cytochrome P450 Family 2 Subfamily D Member 6","category":"pharmacogene","summary":"CYP2D6 is a hepatic cytochrome P450 enzyme that metabolizes roughly 25% of clinically used drugs, including codeine, tramadol, tamoxifen, many antidepressants, antipsychotics and beta blockers. It is the most polymorphic CYP450 enzyme in humans, with more than 100 named star alleles, and copy-number variation matters as much as point mutations. Two people taking the same dose can have plasma concentrations that differ by 50x because of CYP2D6 genotype alone.","url":"https://deepdna.ai/api/v1/genes/CYP2D6"},{"symbol":"CYP2C19","name":"Cytochrome P450 Family 2 Subfamily C Member 19","category":"pharmacogene","summary":"CYP2C19 is a hepatic cytochrome P450 enzyme that activates the antiplatelet prodrug clopidogrel and clears proton-pump inhibitors, several antidepressants, diazepam and the antifungal voriconazole. Poor metabolizers convert little clopidogrel to its active form, a difference linked to higher rates of stent thrombosis and recurrent cardiovascular events and the basis of the drug's FDA boxed warning. Star-allele haplotypes map to poor, intermediate, normal, rapid and ultra-rapid metabolizer phenotypes.","url":"https://deepdna.ai/api/v1/genes/CYP2C19"},{"symbol":"CYP2C9","name":"Cytochrome P450 Family 2 Subfamily C Member 9","category":"pharmacogene","summary":"CYP2C9 is a hepatic cytochrome P450 enzyme that clears the anticoagulant warfarin, phenytoin, several NSAIDs and some sulfonylureas. People with reduced-function alleles break warfarin down slowly, need much lower doses and face a higher bleeding risk while their dose is found. Together with the drug-target gene VKORC1, CYP2C9 explains a large share of why the right warfarin dose varies so widely between people.","url":"https://deepdna.ai/api/v1/genes/CYP2C9"},{"symbol":"SLCO1B1","name":"Solute Carrier Organic Anion Transporter Family Member 1B1","category":"pharmacogene","summary":"SLCO1B1 encodes the liver uptake transporter OATP1B1, which moves statins and other drugs from the blood into hepatocytes. A common reduced-function variant, rs4149056 (c.521T>C, the *5 allele), lets statins build up in blood and muscle instead, raising the risk of statin-induced muscle pain (myopathy), most strongly with simvastatin. SLCO1B1 affects statin tolerability, not whether the statin lowers cholesterol.","url":"https://deepdna.ai/api/v1/genes/SLCO1B1"},{"symbol":"G6PD","name":"Glucose-6-Phosphate Dehydrogenase","category":"pharmacogene","summary":"G6PD encodes the enzyme that protects red blood cells from oxidative damage. Inherited deficiency is the most common enzyme defect in humans, carried by roughly 400 million people, and usually causes no symptoms until a trigger appears: fava beans, an infection, or certain medications such as rasburicase and primaquine, after which red cells can break down (hemolysis). Because the gene is on the X chromosome, deficiency affects men more often than women.","url":"https://deepdna.ai/api/v1/genes/G6PD"},{"symbol":"UGT1A1","name":"UDP Glucuronosyltransferase Family 1 Member A1","category":"pharmacogene","summary":"UGT1A1 encodes the only enzyme that conjugates bilirubin for excretion. The reduced-function promoter variant UGT1A1*28 causes Gilbert syndrome, a common and benign cause of mild unconjugated hyperbilirubinemia that often shows up unexpectedly on a routine blood test. The same variant slows the breakdown of a few drugs, most importantly the chemotherapy agent irinotecan, where it changes the safe dose.","url":"https://deepdna.ai/api/v1/genes/UGT1A1"},{"symbol":"HFE","name":"Homeostatic Iron Regulator","category":"disease_risk","summary":"HFE encodes a protein that regulates iron absorption by controlling hepcidin production. Two common variants, C282Y and H63D, reduce that control, and carrying two copies of C282Y is the main genetic cause of hereditary hemochromatosis type 1, an iron overload disorder common in Northern European populations. The genotype is common but the disease is not: most C282Y homozygotes never develop iron-related organ disease.","url":"https://deepdna.ai/api/v1/genes/HFE"},{"symbol":"APOE","name":"Apolipoprotein E","category":"disease_risk","summary":"APOE encodes apolipoprotein E, a 299-amino-acid lipid-transport protein, and is the strongest common genetic risk factor for late-onset Alzheimer's disease and a major modulator of cardiovascular disease. The three classical alleles ε2, ε3 and ε4 are defined by combinations of two missense SNPs, rs429358 and rs7412. ε4 raises lifetime Alzheimer's risk and ε2 lowers it, with effect sizes among the largest in complex-disease genetics.","url":"https://deepdna.ai/api/v1/genes/APOE"},{"symbol":"BRCA1","name":"BRCA1 DNA Repair Associated","category":"disease_risk","summary":"BRCA1 is a tumor suppressor gene encoding a protein essential for homologous-recombination repair of DNA double-strand breaks. Loss-of-function variants confer substantially elevated lifetime risk of breast and ovarian cancer, the basis of hereditary breast and ovarian cancer syndrome, with risks large enough to drive surveillance and risk-reducing surgical decisions. ClinVar records thousands of distinct BRCA1 variants; consumer SNP arrays test only a handful.","url":"https://deepdna.ai/api/v1/genes/BRCA1"},{"symbol":"VKORC1","name":"Vitamin K epoxide reductase complex subunit 1","category":"pharmacogene","summary":"VKORC1 encodes the enzyme that warfarin inhibits, so it sets how sensitive a person is to the drug. The promoter variant -1639G>A (rs9923231) is the main genetic driver of warfarin sensitivity and is combined with CYP2C9 star alleles in CPIC dosing algorithms.","url":"https://deepdna.ai/api/v1/genes/VKORC1"}],"meta":{"disclaimer":"Educational information only, not medical advice or diagnosis. Consult a clinician before acting on genetic information.","api_version":"2026-09-20","docs":"https://deepdna.ai/docs/","status":"live"}}