Research — GeneOps

rs17602729 Enzyme critical for energy production during high-intensity exercise; deficiency reduces sprint and power performance

Chromosome 1 Risk Allele A Category Fitness & Body Tags Muscle, Sprint & Power, Exercise, Endurance, Fitness, Energy Metabolism, Exercise Performance, Fatigue

Every explosive movement — a sprint, a jump, a tackle — demands instant ATP. When muscles work at maximum intensity, adenosine monophosphate deaminase 1 (AMPD1)(https://www.ncbi.nlm.nih.gov/gene/270) orchestrates a critical step in energy recycling: converting AMP to IMP (inosine monophosphate), which feeds back...

rs17697515 Intronic VEGFC variant independently associated with reduced diabetic retinopathy and diabetic macular edema risk; the protective T allele modulates VEGF-C-driven pathological retinal neovascularization

Chromosome 4 Risk Allele C Category Vascular Inflammation & Remodeling Tags Cardiovascular, Inflammation, Diabetes, Lymphatic

The vascular endothelial growth factor C (VEGF-C) is best known as the master regulator of lymphangiogenesis — the growth of new lymphatic vessels — but its role extends into pathological angiogenesis in the eye and into cardiac repair after injury. In the retina, where there are no lymphatic vessels, VEGF-C...

rs1801175 Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 causing glycogen storage disease type Ia; the most common G6PC1 disease allele in European and Ashkenazi Jewish populations, with complete abolition of enzyme activity when homozygous; heterozygous carriers are clinically unaffected but carry reproductive risk

Chromosome 17 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Metabolic, Liver, Carrier Status, Fasting Glucose, Genetic Counseling, Triglycerides

After every meal, your liver stores glucose as glycogen. Between meals and during overnight fasting, it reverses this process — breaking glycogen back down and releasing glucose into the bloodstream to fuel the brain and other organs. The final, rate-limiting step of this release is controlled by...

rs1801516 Missense variant in the ATM DNA-damage kinase associated with increased radiation sensitivity and mildly altered genomic stability signaling

Chromosome 11 Risk Allele A Category Longevity & Aging Tags DNA Repair, Radiation Sensitivity, Genomic Stability, Cancer Risk, Longevity

Every time a cell copies its DNA or is exposed to ionizing radiation, double-strand breaks (DSBs) — the most dangerous form of DNA damage — can occur. The ATM kinase is the cell's first responder to these breaks, sensing the break and triggering a cascade that halts the cell cycle, recruits repair machinery, and...

rs1805762 Intronic M6PR variant associated with modest hypertension risk in East Asian populations through lysosomal trafficking and intracellular receptor recycling pathways

Chromosome 12 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Tags Hypertension, Blood Pressure, Cardiovascular, Heart Disease, Ancestry-Specific, Inflammation

The M6PR gene encodes the cation-dependent mannose-6-phosphate receptor (CD-M6PR)(https://pubmed.ncbi.nlm.nih.gov/18003638/). Its more famous sibling, IGF2R (the cation-independent M6P receptor), doubles as a receptor for insulin-like growth factor II and has been directly implicated in angiotensin-II-driven cardiac...

rs193922385 A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-binding protein C, found in individuals with hypertrophic and dilated cardiomyopathy; classified as a variant of uncertain significance with conflicting evidence for independent pathogenicity

Chromosome 11 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Heart Disease, Cardiovascular, Genetic Counseling, Carrier Status, Biomarkers

The MYBPC3 gene encodes cardiac myosin-binding protein C (cMyBP-C)(https://pubmed.ncbi.nlm.nih.gov/26358504/), the most important structural protein in the heart's contractile machinery. cMyBP-C serves double duty: it stabilizes the ordered arrangement of myosin filaments and acts as a phosphorylation-dependent...

rs2023239 Intronic variant near the CNR1 exon 3 alternative promoter that modulates CB1 receptor mRNA isoform balance; the C (risk) allele is associated with greater hippocampal volume loss in heavy cannabis users, heightened cannabis withdrawal and craving, and participation in a female-specific nicotine dependence haplotype

Chromosome 6 Risk Allele C Category Mood & Behavior Tags Endocannabinoid, Addiction, Brain Health, Neurotransmitters, Stress Response, Cannabis

Deep in intron 2 of the CNR1 gene — about 400 base pairs upstream from an alternative exon 3 transcription start site() — sits rs2023239, a T-to-C substitution that alters CB1 receptor isoform balance in ways that matter most for cannabis users. The C allele (reported as "G" in papers using coding-strand notation,...

rs2066845 NOD2 bacterial sensor variant that increases Crohn's disease risk by impairing immune response to gut bacteria

Chromosome 16 Risk Allele C Category IBD & Mucosal Immunity Tags Immune Function, Gut Microbiome, Inflammatory Bowel Disease, Bacterial Sensing

The NOD2 gene encodes an intracellular pattern recognition receptor that detects bacterial cell wall fragments(https://pubmed.ncbi.nlm.nih.gov/19805227/). When bacteria are present, NOD2 triggers immune responses through the NF-κB pathway, producing antimicrobial peptides and recruiting immune cells to fight...

rs2206949 Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus independently associated with endometriosis susceptibility; the T allele modestly increases risk (OR ~1.10) and lies near ARMT1 (Acidic Residue Methyltransferase 1), influencing estrogen-sensitive gene regulation at this replicated endometriosis GWAS locus

Chromosome 6 Risk Allele T Category Endometriosis & Uterine Health Tags Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, Bone Health

The 6q25.1 chromosomal region is one of the most important genetic loci in female reproductive biology. It contains the ESR1 gene (estrogen receptor alpha), which orchestrates estrogen signaling across the endometrium, ovary, bone, brain, and cardiovascular system. Nearby sits ARMT1 (Acidic Residue Methyltransferase...

rs2229616 Missense variant in MC4R converting valine to isoleucine at position 103; the I103 allele confers modest but replicable protection against obesity and improves metabolic syndrome components

Chromosome 18 Risk Allele T Category Appetite & Obesity Tags Appetite, Obesity, Metabolic, Metabolic Health, Cardiovascular, Triglycerides

The melanocortin-4 receptor (MC4R) is the master satiety switch in your hypothalamus. When activated by alpha-melanocyte stimulating hormone (α-MSH) — itself triggered by leptin signaling from fat tissue — MC4R fires a stop-eating signal and ramps up energy expenditure. Most MC4R mutations impair this system,...