Research — GeneOps

rs114947103 Intronic CDHR3 variant in high linkage disequilibrium with the C529Y functional variant (rs6967330), tagging elevated rhinovirus C receptor activity and increased susceptibility to rhinovirus-induced wheezing and childhood asthma exacerbations

Chromosome 7 Risk Allele C Category Innate Immunity & Infection Defense Tags Innate Immunity, Asthma, Respiratory Infections, Infection Risk, Immune & Antiviral

Every autumn, rhinovirus C (RV-C) tears through daycares and schools, triggering wheezing episodes that send hundreds of thousands of children to emergency departments. Unlike rhinovirus A and B — which use ICAM-1 and LDLR as cell-entry receptors — RV-C cannot infect a cell unless that cell displays CDHR3...

rs1172816 Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13.4, associated with earlier age at natural menopause and reduced ovarian reserve; T allele carriers have lower AMH levels and accelerated follicle depletion.

Chromosome 19 Risk Allele T Category Fertility & Ovarian Function Tags Ovarian Reserve, Fertility, Menopause, DNA Repair, Reproductive Health, Aging

Inside every follicle in the ovary, a delicate balance of kinase activity determines whether a dormant primordial oocyte survives or is irreversibly lost. BRSK1 — BR serine/threonine kinase 1 — is one of the molecular timekeepers in this system. Variants in BRSK1 are among the most robustly replicated genetic...

rs11959928 Intronic regulatory variant that increases DAB2 expression in kidney tubules, amplifying TGF-β-driven fibrosis and raising chronic kidney disease risk

Chromosome 5 Risk Allele A Category Cholesterol & Lipoproteins Tags Kidney Function, Chronic Kidney Disease, Fibrosis, Inflammation, Diet

Inside every kidney proximal tubule cell, a small adaptor protein called DAB2 (Disabled-2) serves as a molecular traffic controller — guiding megalin and cubilin receptors through the endocytic pathway that recovers albumin, vitamins, and hormones from filtered urine. DAB2(https://www.ncbi.nlm.nih.gov/gene/1601) is...

rs121434280 Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitive reduction in fatty acid oxidation capacity; homozygous individuals retain substantial residual activity and are likely asymptomatic, but compound heterozygotes pairing this allele with a more severe ACADM variant are at risk for MCAD deficiency

Chromosome 1 Risk Allele C Category Metabolic Enzymes & Rare Disorders Tags Fat Metabolism, Energy Metabolism, Carrier Status, Metabolic, Micronutrients, Genetic Counseling

Every time you go more than a few hours without eating, your body shifts from burning dietary glucose to burning stored fat. This switch depends on fatty acid oxidation() — and medium-chain fatty acids (C6–C12 carbon chains) are a major energy source during that transition. The enzyme that catalyzes their first...

rs121434292 Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter, causing autosomal recessive acrodermatitis enteropathica — a treatable zinc malabsorption disorder

Chromosome 8 Risk Allele A Category Iron & Mineral Transport Tags Zinc, Minerals, Micronutrients, Carrier Status, Genetic Counseling, Skin Health

Your small intestine contains a protein called ZIP4, encoded by SLC39A4, that acts as the primary gateway for absorbing dietary zinc. ZIP4 sits on the apical (luminal) surface of enterocytes in the duodenum and jejunum, where it actively transports zinc ions from food into the intestinal wall — the first step in...

rs121907892 Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, causing renal hypouricemia type 1 with very low serum uric acid and risk of exercise-induced acute kidney injury

Chromosome 11 Risk Allele A Category Uric Acid & Kidney Function Tags Uric Acid, Kidney Function, Gout, Ancestry-Specific, Exercise, Kidney Stones

Uric acid() is a double-edged molecule. High levels cause gout and kidney stones; dangerously low levels, it turns out, carry their own risks. The SLC22A12 gene encodes URAT1 (Urate Transporter 1)(https://pubmed.ncbi.nlm.nih.gov/12080426/), the dominant uric acid recapture protein in the kidney. The W258X variant...

rs121918474 Pathogenic missense variant in protein S causing autosomal dominant thrombophilia with significantly elevated venous thromboembolic risk

Chromosome 3 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Thrombophilia, Thrombosis, Blood Clotting, Cardiovascular, Blood Thinners, Genetic Counseling

When a blood vessel is damaged, the body must rapidly form a clot—but equally important is knowing when to stop. Protein S(https://www.ncbi.nlm.nih.gov/gene/5627) is one of the body's key brakes on coagulation: it acts as an essential cofactor for activated protein C (APC)(https://pubmed.ncbi.nlm.nih.gov/40029645/),...

rs1229984 ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing rapid acetaldehyde accumulation, the "Asian flush" response, and strong protection against alcoholism — but elevated esophageal cancer risk in carriers who drink

Chromosome 4 Risk Allele C Category Mood & Behavior Tags Addiction, Alcohol, Cancer Risk, Detoxification, Carcinogen Metabolism, Liver Health

When ADH1B encodes the beta subunit of alcohol dehydrogenase, the His48Arg variant (rs1229984, also called ADH1B2 or Arg47His in older nomenclature) produces an enzyme that operates at a fundamentally different speed. Carriers of the His48 allele — the T allele on the genomic plus strand — have an ADH1B enzyme that...

rs12402521 Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg higher stress-induced blood pressure than A-allele carriers due to reduced sympathetic dampening.

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Tags Blood Pressure, Hypertension, Stress Response, Cardiovascular, Heart Disease

Your blood pressure during and after stressful moments is not just a product of circumstance — it is partly determined by the genetic brakes your body applies to the sympathetic nervous system. Phosducin (PDC) is one of those brakes, a protein that tempers the cascade of adrenaline signaling in the nerve ganglia...

rs1256335 Intronic variant near ALPL associated with increased alkaline phosphatase activity, lowering circulating PLP (the active form of vitamin B6) — those with two G copies have higher ALPL activity and lower plasma B6 levels

Chromosome 1 Risk Allele G Category Vitamins & Nutrient Absorption Tags B Vitamins, Methylation, Cardiovascular, Diet, Inflammation

Your blood carries vitamin B6 mostly as pyridoxal 5'-phosphate (PLP)(). Before PLP can enter cells from the bloodstream, it must be dephosphorylated to pyridoxal (PL) by membrane-bound tissue-nonspecific alkaline phosphatase (TNSALP)() — then re-phosphorylated back to PLP inside the cell. ALPL is therefore the...