Research — GeneOps

rs2536 3'UTR variant that alters miR-150 binding affinity; the C allele increases microRNA-mediated suppression of MTOR expression and is associated with improved cancer prognosis and reduced mTOR pathway activity

Chromosome 1 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, Autophagy, Cancer Risk, mTOR Pathway, Inflammation

The mTOR (mechanistic target of rapamycin) protein is the central command node for one of the most consequential decisions cells make: whether to grow or to clean house. When nutrients and growth signals are abundant, mTOR drives protein synthesis and cell proliferation. When mTOR is suppressed — by fasting, caloric...

rs28936687 Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrhagic telangiectasia type 2 (HHT2) and pulmonary arterial hypertension

Chromosome 12 Risk Allele A Category Vascular Inflammation & Remodeling Tags Cardiovascular, Angiogenesis, Heart Disease, Blood Pressure, Genetic Counseling, Carrier Status

The ACVRL1 gene encodes ALK1(https://pubmed.ncbi.nlm.nih.gov/27528761/), a receptor that sits on the surface of blood vessel lining cells and binds the growth factors BMP9 and BMP10(https://pubmed.ncbi.nlm.nih.gov/27528761/). When ALK1 is working normally, this BMP9/BMP10 signaling keeps blood vessel walls stable...

rs28942085 Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outside coated pits, causing familial hypercholesterolemia with severely elevated LDL-C and early-onset cardiovascular disease

Chromosome 19 Risk Allele G Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, LDL Cholesterol, Statins, Atherosclerosis

The LDL receptor (LDLR)() is the primary gatekeeper of blood cholesterol. Every cell that needs cholesterol displays LDLR on its surface; the liver uses it most heavily to clear LDL from circulation. When LDLR is absent or non-functional, LDL-C accumulates — a condition called familial hypercholesterolemia (FH). The...

rs367543005 Nonsense mutation in argininosuccinate lyase introducing a premature stop codon that abolishes the fourth step of the urea cycle; a founder allele in Arab populations causing argininosuccinic aciduria, the second most common urea cycle disorder — homozygotes develop neonatal hyperammonemia and require lifelong arginine supplementation, protein restriction, and hepatic surveillance

Chromosome 7 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Urea Cycle, Metabolic, Carrier Status, Congenital, Liver, Genetic Counseling

Every amino acid your body breaks down for energy releases nitrogen in the form of ammonia — a molecule that is toxic to the brain even at low concentrations. The urea cycle(https://pubmed.ncbi.nlm.nih.gov/22241104/) exists to neutralize this steady stream of ammonia before it reaches the bloodstream....

rs3918242 Promoter variant that disrupts an SP1 transcription factor binding site, increasing MMP-9 expression in vascular tissue; the T allele is associated with elevated plaque instability, higher risk of myocardial infarction, and increased ischemic stroke risk, particularly in Asian populations

Chromosome 20 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Atherosclerosis, Cardiovascular, Extracellular Matrix, Inflammation, Heart Disease, Cerebrovascular

Your arteries are constantly remodeling. Smooth muscle cells, collagen fibers, and immune cells weave together to form atherosclerotic plaques — and whether those plaques stay stable or rupture depends heavily on the enzymes that digest the extracellular matrix. MMP-9 (matrix metalloproteinase 9) is one of the most...

rs397507174 Pathogenic missense variant in biotinidase that abolishes biotin recycling; heterozygous carriers have partial enzyme reduction while homozygotes and compound heterozygotes develop biotinidase deficiency requiring lifelong biotin supplementation

Chromosome 3 Risk Allele G Category Vitamins & Nutrient Absorption Tags B Vitamins, Micronutrients, Carrier Status, Genetic Counseling, Vitamins, Biomarkers

Every time a biotin-dependent enzyme finishes its job — carboxylating pyruvate, acetyl-CoA, propionyl-CoA, or 3-methylcrotonyl-CoA — the biotin cofactor is covalently attached to the enzyme and must be liberated before it can be reused. Biotinidase(https://pubmed.ncbi.nlm.nih.gov/22241090/) is the enzyme responsible...

rs397515563 Splice donor variant disrupting DNAI1 intron 19, causing in-frame deletion of exon 19 (A607_K667del); pathogenic for autosomal recessive primary ciliary dyskinesia with outer dynein arm defects, chronic sinopulmonary disease, and situs inversus

Chromosome 9 Risk Allele A Category Innate Immunity & Infection Defense Tags Carrier Status, Lung Health, Respiratory Infections, Male Fertility, Autoimmune, Innate Immunity

Cilia are microscopic hair-like projections that line virtually every airway in your respiratory tract, propelling mucus and trapped particles upward and out of your lungs. The engine that drives ciliary beating is the outer dynein arm(https://pubmed.ncbi.nlm.nih.gov/11231901/) — and DNAI1 encodes one of its...

rs397515953 Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-like domain of cardiac myosin-binding protein C, disrupting sarcomere assembly and causing hypertrophic cardiomyopathy through haploinsufficiency (autosomal dominant)

Chromosome 11 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Arrhythmia, Congenital

Every heartbeat depends on a choreography of proteins that contract precisely and relax completely. At the heart of this machinery sits cardiac myosin-binding protein C (cMyBP-C)(https://pubmed.ncbi.nlm.nih.gov/37445689/), which integrates the myosin motor machinery into a regulated, ordered structure called the...

rs4077515 Gain-of-function missense variant in the CARD9 adaptor protein that enhances antifungal immune signaling, increasing susceptibility to inflammatory bowel disease, allergic bronchopulmonary aspergillosis, and recurrent fungal infections

Chromosome 9 Risk Allele T Category IBD & Mucosal Immunity Tags Immune & Gut, Innate Immunity, Gut Microbiome, Inflammatory Bowel Disease, Infection Risk, Crohn's Disease

Your immune system relies on a sophisticated surveillance network to detect and destroy fungal invaders. At the center of this network sits CARD9(https://www.ncbi.nlm.nih.gov/gene/64170), an adaptor protein that connects fungal detection at the cell surface to the inflammatory response inside the cell. The rs4077515...

rs41423247 Intronic glucocorticoid receptor variant affecting cortisol sensitivity and stress response regulation

Chromosome 5 Risk Allele C Category Mood & Behavior Tags Mental Health, Stress Response, Cortisol, HPA Axis, Depression, Anxiety, Cardiovascular, Metabolic Syndrome

The NR3C1 gene encodes the glucocorticoid receptor, your body's primary sensor for cortisol—the stress hormone. When life throws challenges your way, your hypothalamic-pituitary-adrenal axis(https://en.wikipedia.org/wiki/Hypothalamic%E2%80%93pituitary%E2%80%93adrenalaxis) springs into action, releasing cortisol to...