Research — GeneOps

rs397516929 Rare missense variant in desmoplakin that likely disrupts desmosomal integrity and is associated with arrhythmogenic cardiomyopathy risk

Chromosome 6 Risk Allele C Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Arrhythmia, Fibrosis, Genetic Counseling, Carrier Status

Desmosomes are the mechanical rivets that hold cardiac muscle cells together under the repetitive stress of every heartbeat. Desmoplakin (DSP) is the master scaffold of the desmosome — the only structural protein that spans from the desmosome's cytoplasmic plaque all the way to the intermediate filaments inside the...

rs4900442 Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele associated with a higher 24S-hydroxycholesterol/cholesterol ratio in CSF and modestly elevated Alzheimer's disease risk, primarily in East Asian populations

Chromosome 14 Risk Allele C Category Cholesterol & Lipoproteins Tags Brain Health, Cholesterol, Alzheimer's, Cognitive Decline, Neurodegeneration, Lipid Metabolism

Your brain makes its own cholesterol — and unlike the rest of your body, it has almost no way to get rid of it. The blood-brain barrier blocks cholesterol from simply diffusing out, so the brain relies almost entirely on a single enzyme, cholesterol 24-hydroxylase(https://pubmed.ncbi.nlm.nih.gov/12232784/), to...

rs4986791 Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on the same haplotype, together reducing LPS-driven innate immune signaling and altering gram-negative bacterial recognition

Chromosome 9 Risk Allele T Category Innate Immunity & Infection Defense Tags Immune System, Inflammation, Autoimmune, Cardiovascular, Infectious Disease

Toll-like receptor 4 (TLR4)(https://www.ncbi.nlm.nih.gov/gene/7099) orchestrates your body's first response to bacterial threats. The Thr399Ile variant (rs4986791) — a C-to-T transition at coding position 1196 that replaces threonine with isoleucine at protein position 399(https://pubmed.ncbi.nlm.nih.gov/10835634/)...

rs57035593 Intronic variant in TC2N (tandem C2 domains, nuclear) robustly associated with venous thromboembolism risk; the T allele increases VTE risk and was validated by CRISPR zebrafish knockdown as a genuine novel hemostasis gene

Chromosome 14 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Thrombosis, Blood Clotting, Cardiovascular, Thrombophilia, Heart Disease, Genetic Counseling

Most people have heard of Factor V Leiden or prothrombin G20210A as genetic drivers of venous blood clots. TC2N (Tandem C2 Domains, Nuclear) barely appeared on coagulation researchers' radar until 2022 — yet genome-wide studies now place this gene at a locus with one of the most statistically significant...

rs5753231 Promoter-proximal upstream variant in TCN2 that increases transcobalamin II protein production, boosting circulating capacity to transport vitamin B12 to cells

Chromosome 22 Risk Allele T Category Vitamins & Nutrient Absorption Tags Vitamin B12, B Vitamins, Methylation, Homocysteine, Micronutrients

Most people know vitamin B12 deficiency from its classic blood tests — low serum B12, megaloblastic anemia. But the real question for cellular function is not how much B12 circulates in total, but how much reaches your cells. That depends almost entirely on one transport protein: transcobalamin...

rs61754011 Pathogenic missense variant in the VWF propeptide D2 domain that prevents high molecular weight multimer assembly in the Golgi apparatus; homozygous carriers develop von Willebrand disease type 2A with mucocutaneous bleeding, while heterozygotes are typically unaffected

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Tags Cardiovascular, Blood Clotting, Carrier Status, Genetic Counseling, Thrombophilia

Von Willebrand factor is the scaffold protein of primary hemostasis: it bridges platelets to exposed collagen at a vascular injury site, and it ferries coagulation factor VIII through the bloodstream. To function, VWF must assemble into massive chain-like multimers(https://pubmed.ncbi.nlm.nih.gov/17002642/)....

rs6295 Functional promoter variant in the serotonin 1A receptor gene that increases autoreceptor expression in raphe neurons and reduces serotonergic output, predicting poor antidepressant response

Chromosome 5 Risk Allele G Category Mood & Behavior Tags Serotonin, Antidepressants, Mood, Mental Health, Pharmacogenomics, Neurotransmitters

The serotonin system runs on a delicate feedback loop. When serotonin neurons in the raphe nuclei(https://pubmed.ncbi.nlm.nih.gov/22826341/) fire too strongly, they activate 5-HT1A autoreceptors on their own cell bodies. This autoreceptor acts as a brake, slowing firing and reducing serotonin output throughout the...

rs662 Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and protecting LDL from oxidation

Chromosome 7 Risk Allele C Category Vascular Inflammation & Remodeling Tags Cardiovascular, Detoxification, Cholesterol, Diet, Organophosphate Toxicity

Paraoxonase-1 (PON1) is an enzyme that rides on HDL particles(https://pubmed.ncbi.nlm.nih.gov/28002401/) in your bloodstream, where it performs two critical jobs: detoxifying organophosphate pesticides(https://pubmed.ncbi.nlm.nih.gov/23590198/) and protecting LDL cholesterol from oxidative...

rs6908425 Intronic variant in CDKAL1, a tRNA methylthiotransferase gene; the C allele is associated with increased risk of Crohn's disease and shared pleiotropic risk for psoriasis through immune cell expression of CDKAL1

Chromosome 6 Risk Allele C Category IBD & Mucosal Immunity Tags Crohn's Disease, Inflammatory Bowel Disease, Autoimmune, IBD, Inflammation, Gut Health

Inside every cell, a set of enzymes quietly edits transfer RNA — the molecular adaptors that read genetic code and build proteins. CDKAL1 encodes one of these editors: a methylthiotransferase(https://pubmed.ncbi.nlm.nih.gov/19587699/) that modifies tRNA at position 37, adjacent to the anticodon loop. This...

rs696217 Missense variant in the ghrelin prepropeptide that impairs postprandial ghrelin suppression, increasing appetite, sugar intake, and metabolic syndrome susceptibility

Chromosome 3 Risk Allele T Category Appetite & Obesity Tags Obesity, Appetite, Metabolic Syndrome, Insulin, Fat Metabolism, Satiety, Diabetes

Ghrelin is the body's primary hunger hormone — produced mainly in the stomach, it rises sharply before meals and falls after eating to signal fullness. This rise-and-fall cycle is essential for normal appetite regulation. The rs696217 variant (Leu72Met) substitutes leucine for methionine at position 72 of the...