Research — GeneOps

rs2228001 Missense variant in the DNA damage recognition gene XPC that reduces global-genome nucleotide excision repair capacity, affecting recovery from UV-induced damage, exercise-generated oxidative DNA lesions, and environmental carcinogen exposure

Chromosome 3 Risk Allele G Category Fitness & Body Tags DNA Repair, Fitness, Recovery, Cancer Risk, Skin Cancer, Oxidative Stress

Every day your cells experience thousands of DNA lesions from sunlight, environmental chemicals, and the byproducts of normal metabolism. The protein encoded by XPC is the first responder in the global genome nucleotide excision repair pathway(https://pubmed.ncbi.nlm.nih.gov/23400628/). XPC acts as the damage...

rs2542052 Promoter variant that reduces APOC3 expression, associated with lower triglycerides, favorable lipoprotein profiles, and enrichment in centenarians

Chromosome 11 Risk Allele A Category Longevity & Aging Tags Longevity, Triglycerides, Cardiovascular, Fat Metabolism, Insulin, Aging

Apolipoprotein C-III (APOC3) is one of the most potent brakes in the human triglyceride clearance system. The liver secretes this small 79-amino-acid protein onto triglyceride-rich lipoproteins(https://pubmed.ncbi.nlm.nih.gov/32849270/), where it inhibits lipoprotein...

rs28936700 Pathogenic missense variant in the cytochrome P450 1B1 enzyme that abolishes most enzyme activity, causing primary congenital glaucoma and reduced estrogen hydroxylation capacity

Chromosome 2 Risk Allele T Category Vascular Inflammation & Remodeling Tags Glaucoma, Eye Health, Estrogen Metabolism, Carcinogen Metabolism, Skin & Eyes

The CYP1B1 enzyme plays two distinct biological roles: it is both a steroid-hormone metabolizer (converting estradiol to catechol estrogens) and a first-line activator of environmental procarcinogens including polycyclic aromatic hydrocarbons(https://www.ncbi.nlm.nih.gov/gene/1545). This dual function makes CYP1B1...

rs370793608 Nonsense variant in the aldolase B gene creating a premature stop codon at position 204; pathogenic for hereditary fructose intolerance (HFI), an autosomal recessive disorder causing toxic fructose-1-phosphate accumulation in liver and kidneys when fructose is ingested

Chromosome 9 Risk Allele C Category Metabolic Enzymes & Rare Disorders Tags Carrier Status, Liver Health, Metabolic, Diet, Food Sensitivity, Genetic Counseling

Most people process dietary fructose without a second thought — the sugar passes through the intestinal wall, enters the liver, and is phosphorylated by fructokinase into fructose-1-phosphate (Fru1P). One enzyme then stands between Fru1P and the rest of metabolism: aldolase...

rs3846662 Intronic HMGCR variant that modulates alternative splicing of exon 13, producing a truncated Δ13 isoform that reduces statin-binding capacity and attenuates LDL-cholesterol lowering in response to statin therapy

Chromosome 5 Risk Allele A Category Cholesterol & Lipoproteins Tags Statins, Cholesterol, Pharmacogenomics, Lipid Metabolism, Cardiovascular, RNA Splicing

Statins are among the most prescribed drugs in the world, yet up to half of patients do not achieve their LDL-cholesterol target on standard doses. Much of this variability traces back to the gene statins are designed to inhibit: HMGCR(). The rs3846662 variant sits in intron 13 of HMGCR and influences a molecular...

rs397514538 Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) causing Brown-Vialetto-Van Laere syndrome type 2, a rare autosomal recessive neurodegenerative disorder; high-dose riboflavin supplementation is the primary disease-modifying treatment

Chromosome 8 Risk Allele C Category Vitamins & Nutrient Absorption Tags B Vitamins, Micronutrients, Neurodegeneration, Neuropathy, Hearing Loss, Carrier Status

Riboflavin (vitamin B2) is the molecular precursor to FAD and FMN(). Unlike many vitamins that diffuse freely across cell membranes, riboflavin is a polar molecule that cannot enter most cells without help. The brain and peripheral nervous system are especially dependent on dedicated transport proteins to maintain...

rs397516127 Pathogenic missense variant in the beta-myosin heavy chain motor domain causing hypertrophic cardiomyopathy through a dominant-negative mechanism; documented in more than 15 unrelated HCM-affected individuals and absent from population databases

Chromosome 14 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Arrhythmia, Fibrosis

Every heartbeat begins at the sarcomere — the basic contractile unit of cardiac muscle, where the protein beta-myosin heavy chain(https://pubmed.ncbi.nlm.nih.gov/15358028/) physically pulls actin filaments to shorten the cell. The Arg663Cys variant introduces a single amino acid change in the myosin motor domain —...

rs4252130 Intronic PLG variant tagging a regional haplotype that reduces plasminogen expression, impairing fibrinolysis, macrophage recruitment, and mucosal wound healing — with documented associations with periodontitis susceptibility and plasminogen level variation

Chromosome 6 Risk Allele C Category Innate Immunity & Infection Defense Tags Innate Immunity, Infection Risk, Fibrinolysis, Periodontal Disease, Inflammation, Macrophage

Plasminogen is a liver-secreted zymogen that circulates in the blood and anchors to cell surfaces, fibrin clots, and invading pathogens. When activated by tissue plasminogen activator (tPA) or urokinase (uPA)(https://pubmed.ncbi.nlm.nih.gov/32861744/), it becomes plasmin — a broad-spectrum protease that dissolves...

rs4395923 Intronic variant in the brain neurosteroid hydroxylase gene affecting DHEA and pregnenolone catabolism, linked to GABAergic tone and anxiety risk in GWAS

Chromosome 8 Risk Allele A Category Mood & Behavior Tags Anxiety, Mood, Neurotransmitters, Steroid Hormones, Mental Health, Hormones

Deep inside brain neurons and astrocytes, a cytochrome P450 enzyme quietly shapes the chemical environment that governs anxiety, mood, and stress resilience. The CYP7B1 gene(https://www.ncbi.nlm.nih.gov/gene/9420) encodes the enzyme responsible for breaking down two pivotal neurosteroids —...

rs4537545 Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala (rs2228145) coding change; the C allele tags a haplotype associated with elevated CRP, LDL, and ApoB and with reduced protection from coronary heart disease risk

Chromosome 1 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Inflammation, Cardiovascular, Heart Disease, JAK-STAT Signaling, LDL Cholesterol, Biologic Therapy

Interleukin-6 (IL-6) is one of the body's most powerful inflammatory messengers. When tissue is damaged, infected, or metabolically stressed, IL-6 floods the bloodstream, triggering C-reactive protein (CRP) production in the liver, activating immune cells, and — at chronically elevated levels — accelerating...