Research — GeneOps

rs1049434 Primary lactate transporter in skeletal muscle — affects lactate clearance during high-intensity exercise and recovery between intervals

Chromosome 1 Risk Allele A Category Fitness & Body Tags Fitness, Endurance, Sprint & Power, Lactate, Recovery, Injury Risk

Every time you push past your comfort zone during exercise — sprinting, lifting heavy, climbing a steep hill — your muscles ramp up anaerobic glycolysis() and flood the local environment with lactate(). Getting that lactate out of the producing muscle and into tissues that can burn it as fuel is the job of...

rs1057517151 Frameshift deletion in coagulation factor XI causing likely-pathogenic partial or severe FXI deficiency (hemophilia C); heterozygous carriers have partial deficiency with variable surgical bleeding risk, homozygotes face severe deficiency with ~60% bleeding rate at high-risk surgical sites

Chromosome 4 Risk Allele D Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombophilia, Carrier Status, Thrombosis

Coagulation factor XI (FXI) sits at a pivotal junction in the clotting cascade: it amplifies clot formation in tissues with high fibrinolytic activity — the mouth, nose, and urinary tract — where clots dissolve rapidly and need reinforcement. The F11 gene on chromosome 4q35.2 encodes FXI, and the c.291del frameshift...

rs1058322 Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune cells and is associated with dose-dependent cardiovascular disease risk in people with impaired glucose tolerance

Chromosome 12 Risk Allele T Category Fat Storage & Energy Tags Adipogenesis, Cardiovascular, Fat Metabolism, Insulin Resistance, Metabolic Health, Omega-3

Adiponectin is a fat-tissue hormone with a counterintuitive property: its levels fall as body fat increases, precisely when its metabolic protection is most needed. Low circulating adiponectin is a consistent predictor of insulin resistance, type 2 diabetes, dyslipidaemia, and cardiovascular...

rs1062033 Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 transcriptional activity via CEBPβ binding, with downstream effects on local estrogen synthesis, bone mineral density, and hormone-sensitive tissue biology

Chromosome 15 Risk Allele C Category Hormones & Sleep Tags Aromatase, Steroid Hormones, Bone Health, Estrogen, Women's Health, Vitamins

Aromatase — encoded by CYP19A1 on chromosome 15 — is the enzyme that converts androgens (testosterone, androstenedione) into estrogens (estradiol, estrone) in peripheral tissues. Unlike the ovaries and testes, which produce estrogen in bulk, bone, fat, liver, brain, and breast tissue rely on local aromatase activity...

rs1064793792 Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes hereditary angioedema Type I with recurrent life-threatening swelling attacks

Chromosome 11 Risk Allele D Category B-Cell Immunity & Antibody-Mediated Disease Tags Complement System, Complement, Autoimmune, Inflammation, Genetic Counseling, Innate Immunity, Hereditary Angioedema

The SERPING1 gene encodes C1-inhibitor (C1-INH)(https://www.ncbi.nlm.nih.gov/gene/710), the body's frontline inflammatory response systems. C1-INH keeps these systems from running uncontrolled. When C1-INH is absent or non-functional, the contact activation pathway generates bradykinin — a potent peptide that opens...

rs10739076 Intergenic PCOS susceptibility locus downstream of PLGRKT (plasminogen receptor); the C allele is the risk allele associated with increased PCOS susceptibility, reduced fibrinolytic capacity, and prothrombotic physiology in affected women

Chromosome 9 Risk Allele C Category Fertility & Ovarian Function Tags PCOS, Thrombosis, Fertility, Cardiovascular, Omega-3, Insulin Resistance, Thrombophilia

Polycystic ovary syndrome affects 5–15% of women of reproductive age and carries a substantially elevated risk of cardiovascular and thrombotic complications. A 2018 genome-wide meta-analysis by Day et al. in PLoS Genetics(https://pubmed.ncbi.nlm.nih.gov/30566500/) identified rs10739076 near the PLGRKT gene as one...

rs10804920 Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in primordial follicle oocytes; the T allele is associated with later age at natural menopause, reflecting better oocyte quality control and preservation of the ovarian reserve over time

Chromosome 3 Risk Allele C Category Gamete Quality & DNA Repair Tags Fertility, Ovarian Reserve, Reproductive Health, DNA Repair, Apoptosis, Women's Health

Every woman is born with her entire lifetime supply of eggs already formed. These primordial follicle oocytes sit in meiotic arrest, sometimes for decades, under constant threat from DNA damage accumulating over time — from metabolic byproducts, environmental toxins, radiation, and the simple passage of years. The...

rs10818488 Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A allele reduces TRAF1 expression, amplifying NF-kB-driven inflammation and increasing rheumatoid arthritis risk in Europeans

Chromosome 9 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Tags Rheumatoid Arthritis, Autoimmune, Inflammation, Complement System, Anti-TNF Biologics, Immune & Autoimmune

Two genes sit on chromosome 9q33-34, separated by roughly 10 kilobases of intergenic DNA: TRAF1, a signaling adapter that modulates NF-kB activation, and C5, the complement protein that bridges innate and adaptive immunity. The rs10818488 polymorphism lies exactly in this gap — a regulatory...

rs10832310 Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a haplotype associated with reduced vitamin D 25-hydroxylase activity and lower circulating 25-hydroxyvitamin D levels

Chromosome 11 Risk Allele G Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Immune System, Micronutrients, Vitamins

Vitamin D from sunlight or supplements is biologically inert until the liver converts it into 25-hydroxyvitamin D (25(OH)D)(). This first hydroxylation step is performed primarily by a cytochrome P450 enzyme called CYP2R1, encoded on chromosome 11p15.2. Without this enzyme working efficiently, neither sun exposure...

rs10846744 Intronic SCARB1 variant associated with altered HDL-receptor function, subclinical atherosclerosis, and increased coronary heart disease risk

Chromosome 12 Risk Allele C Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, HDL Cholesterol, Triglycerides

When your HDL particles finish their journey through the bloodstream collecting excess cholesterol from tissues, they need somewhere to deliver it. That final destination is the liver, and the molecule that accepts the delivery is SR-BI(https://pubmed.ncbi.nlm.nih.gov/22628436/). The SCARB1 gene encodes SR-BI, and...