Research — GeneOps

rs3091244 Triallelic promoter variant that strongly influences basal CRP transcription; the T (coding) and A (coding) alleles both increase CRP expression, with the A allele having the largest effect on circulating CRP levels

Chromosome 1 Risk Allele T Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Inflammaging, Biomarkers, Heart Disease

C-reactive protein is the liver's primary sentinel of systemic inflammation — a pentameric protein synthesized within hours of an IL-6 signal, capable of rising 1,000-fold during acute infection. But the baseline CRP level a person carries when healthy is substantially inherited: genetic factors explain 30–40% of...

rs377022708 Pathogenic missense variant in the ACAD9 complex I assembly factor causing severe mitochondrial energy failure; the original riboflavin-responsive ACAD9 allele first identified by Gerards et al. 2011, producing hypertrophic cardiomyopathy, exercise intolerance, and lactic acidosis in homozygous or compound heterozygous carriers.

Chromosome 3 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Mitochondria, Energy Metabolism, Cardiovascular, Fat Metabolism, Carrier Status, B Vitamins

Inside every cell, the mitochondrial electron transport chain converts the chemical energy of nutrients into ATP — the universal cellular fuel. Complex I(https://pubmed.ncbi.nlm.nih.gov/20816094/) is the entry point for electrons from NADH. Without functional complex I, tissues with the highest energy demands —...

rs397516406 Pathogenic missense variant in the ventricular regulatory myosin light chain gene causing familial hypertrophic cardiomyopathy with ~75% penetrance

Chromosome 12 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Biomarkers, Congenital, Muscle

The heart's pumping force is generated by the sarcomere(https://www.ncbi.nlm.nih.gov/books/NBK537051/), a precisely organized molecular motor. The MYL2 gene encodes the ventricular regulatory myosin light chain (RLC), a small protein that wraps around the neck of beta-myosin heavy chain and modulates the force and...

rs41380347 East African lactase persistence allele — MCM6 enhancer SNP that independently maintains LCT expression in Oromo, Somali, Beja, and related pastoral populations

Chromosome 2 Risk Allele A Category Vitamins & Nutrient Absorption Tags Lactose, Food Sensitivity, Diet, Ancestry-Specific, Micronutrients, Gut Health

Human populations that domesticated dairy animals faced a powerful selective pressure: adults who could digest lactose gained a calorie-dense, nutrient-rich food source that also served as a safer alternative to potentially contaminated water. Rather than a single evolutionary solution, natural selection produced at...

rs4149268 Intronic ABCA1 variant — the C allele tags a liver enhancer that boosts ABCA1 expression, raising HDL-cholesterol; T-allele homozygotes show modestly lower HDL and elevated cognitive decline risk

Chromosome 9 Risk Allele T Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, HDL Cholesterol, Cardiovascular, Cognition

ABCA1| ATP-Binding Cassette Transporter A1 — a cell-membrane protein that pumps cholesterol and phospholipids out of cells onto lipid-poor apolipoprotein A-I, creating nascent HDL particles is the rate-limiting step in reverse cholesterol transport(). Without ABCA1, cells cannot shed excess cholesterol and HDL...

rs4648127 Rare protective intronic variant in the master immune transcription factor NF-κB1; the T allele is associated with reduced lung cancer susceptibility and altered innate immune signaling

Chromosome 4 Risk Allele C Category Innate Immunity & Infection Defense Tags Innate Immunity, Immune System, Infectious Disease, Inflammation, Cancer Risk, Lung Health

The NFKB1 gene encodes NF-κB1 (Nuclear Factor kappa-light-chain-enhancer of activated B cells subunit 1)(https://pubmed.ncbi.nlm.nih.gov/34473196/), the essential p105/p50 subunit of the canonical NF-κB signaling complex. When Toll-like receptors and NOD-like receptors detect pathogen components, they trigger...

rs4702 A 3'UTR regulatory variant where the G allele creates a miR-338-3p binding site that suppresses FURIN expression, reducing cleavage of proBDNF to mature BDNF and shifting neurotrophin signaling toward pro-apoptotic pathways

Chromosome 15 Risk Allele G Category Mood & Behavior Tags Neuroplasticity, Brain Health, Mood, Anxiety, Depression, Serotonin

Every neuron in your brain depends on a steady supply of mature brain-derived neurotrophic factor() (BDNF) to survive, form memories, and regulate mood. But BDNF doesn't start out active — it's made as a larger, inactive precursor called proBDNF, which must be cleaved by the enzyme FURIN before it becomes the...

rs4958847 Intronic IRGM variant that impairs autophagy-mediated clearance of intracellular bacteria, raising risk for Crohn's disease — particularly ileal disease and fistulizing complications

Chromosome 5 Risk Allele A Category IBD & Mucosal Immunity Tags Autophagy, Crohn's Disease, Inflammatory Bowel Disease, Immune & Gut, Autoimmune, Inflammation

The human gut is in a constant negotiation with bacteria. Most organisms are kept out by the epithelial barrier, but some — including adherent-invasive Escherichia coli (AIEC)(https://pubmed.ncbi.nlm.nih.gov/17554261/) — breach the lining and invade cells directly. The body's main weapon against these intracellular...

rs4977574 Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease risk ~30% per allele and is specifically amplified by sugar-sweetened beverage intake while vegetable intake attenuates risk

Chromosome 9 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Diet, Cholesterol, Longevity

The 9p21.3 locus on chromosome 9 is the most robustly replicated genetic risk region for coronary artery disease ever identified, and rs4977574 is one of its key sentinels. Located within an intron of CDKN2B-AS1 — the gene encoding ANRIL(https://pubmed.ncbi.nlm.nih.gov/32293292/) — this variant captures a partially...

rs61751290 Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleotide; predicted high-confidence loss-of-function associated with reduced VWF levels and type 1 von Willebrand disease in heterozygous carriers

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

Von Willebrand factor (VWF) is a large multimeric glycoprotein that performs two essential jobs in hemostasis: it tethers activated platelets to sites of vascular injury, and it escorts coagulation factor VIII through the bloodstream, protecting it from premature degradation. Without adequate VWF, even minor wounds...