Research — GeneOps

rs13107325 Zinc and manganese transporter variant that reduces metal ion absorption, affecting gut barrier function and microbiome composition

Chromosome 4 Risk Allele T Category IBD & Mucosal Immunity Tags Cardiovascular, Inflammation, Diet, Gut Microbiome, Metal Metabolism

SLC39A8(https://www.ncbi.nlm.nih.gov/gene/64116) encodes a membrane transporter that moves divalent metal ions — particularly manganese, zinc, and iron — from outside the cell into the cytoplasm. The protein acts as a transporter for multiple metal ions including Zn²⁺, Cd²⁺, Fe²⁺, Mn²⁺, Hg²⁺, and Co²⁺ . The A391T...

rs13181 Missense variant in the XPD helicase that reduces nucleotide excision repair capacity, increasing susceptibility to DNA damage from UV, tobacco smoke, and environmental carcinogens

Chromosome 19 Risk Allele G Category Longevity & Aging Tags DNA Repair, Longevity, Aging, Cancer Risk, Oxidative Stress, Detoxification

Your genome is under constant assault. Every day, ultraviolet radiation, tobacco smoke, air pollution, and industrial chemicals bombard your DNA with bulky chemical modifications called adducts(https://pubmed.ncbi.nlm.nih.gov/27139774/). Left unrepaired, these lesions cause mutations that accumulate over a lifetime...

rs137852641 Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count in EGF-like repeat 6, causing CADASIL — the most common inherited cause of ischemic stroke and vascular dementia

Chromosome 19 Risk Allele A Category Vascular Inflammation & Remodeling Tags Cardiovascular, Neurodegeneration, Dementia, Heart Disease, Genetic Counseling, Cognitive Decline

NOTCH3 encodes a cell-surface signalling receptor expressed almost exclusively in vascular smooth muscle cells. When NOTCH3 functions normally, it helps small arteries maintain their structure and tone throughout life. The Arg332Cys variant disrupts a cysteine in the sixth epidermal growth factor-like (EGF-like)...

rs137852690 STAR missense variant abolishing steroidogenic activity; homozygous carriers develop lipoid congenital adrenal hyperplasia with absent cortisol, aldosterone, and sex hormone production

Chromosome 8 Risk Allele A Category Reproductive Hormones Tags Steroid Hormones, Steroid Metabolism, Carrier Status, Congenital, Fertility, Reproductive Health

Every steroid hormone your body makes — cortisol, aldosterone, testosterone, estrogen — begins with a single critical step: getting cholesterol from the cytoplasm into the inner mitochondrial membrane where the first enzyme of the steroid synthesis pathway lives. Steroidogenic Acute Regulatory protein...

rs137852769 Most common LCHAD deficiency variant; homozygosity causes severe mitochondrial long-chain fatty acid oxidation failure with cardiomyopathy, rhabdomyolysis, and neuropathy; carrier mothers of affected fetuses risk maternal HELLP syndrome and acute fatty liver of pregnancy

Chromosome 2 Risk Allele G Category Metabolic Enzymes & Rare Disorders Tags Fat Metabolism, Mitochondria, Metabolic, Carrier Status, Cardiovascular, Energy Metabolism

The mitochondrial trifunctional protein (MTP)(https://pubmed.ncbi.nlm.nih.gov/15902556/) is the enzymatic workhorse for burning long-chain dietary fats. The HADHA alpha subunit alone carries three distinct catalytic activities: long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), and...

rs1420318 FTO intron 8 variant associated with nominal spine bone mineral density effects and alcohol dependence susceptibility; low LD with the rs9939609 obesity cluster

Chromosome 16 Risk Allele A Category Fitness & Body Tags Fat Metabolism, Obesity, Bone Health, Alcohol, Metabolic

The FTO (fat mass and obesity-associated) gene spans chromosome 16 and contains multiple independently associated genetic variants across different introns. While the best-known FTO variants (rs9939609, rs1421085) cluster in intron 1 and drive the well-replicated obesity association, rs1420318 occupies a different...

rs142885915 An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene associated with stage III/IV endometriosis; the deletion allele tags regulatory variation that amplifies NPSR1-driven neuroinflammatory signalling in the peritoneal environment, implicating a nonhormonal pain and inflammation pathway in advanced disease.

Chromosome 7 Risk Allele D Category Endometriosis & Uterine Health Tags Endometriosis, Fertility, Women's Health, Chronic Pain, Neuroinflammation, Pain Sensitivity, Inflammation

For decades, endometriosis research focused almost exclusively on hormonal mechanisms — oestrogen-driven tissue proliferation, progesterone resistance, and the surgical removal of lesions. A 2021 landmark study changed that picture by pinpointing a gene in the neuropeptide signalling system as the first genetically...

rs1501299 Intronic variant in the adiponectin gene that influences circulating adiponectin levels, insulin sensitivity, and metabolic response to diet; the T allele is associated with lower adiponectin and higher insulin resistance

Chromosome 3 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Diabetes, Insulin, Fat Metabolism, Diet, Inflammation

Adiponectin is sometimes called the body's metabolic guardian(https://pubmed.ncbi.nlm.nih.gov/16033674/) — a hormone that simultaneously sensitizes cells to insulin, suppresses vascular inflammation, and protects the endothelium from atherosclerotic damage. The rs1501299 variant, also known as +276GT, sits in intron...

rs16147 Promoter variant in neuropeptide Y that modulates NPY expression under stress, affecting stress resilience, anxiety vulnerability, appetite regulation, and migraine susceptibility

Chromosome 7 Risk Allele C Category Mood & Behavior Tags Stress Response, Appetite, Obesity, Pain Sensitivity, Cardiovascular, Neurotransmitters

Neuropeptide Y() (NPY) is the brain's most abundant neuropeptide and one of the most potent appetite-stimulating molecules known. But NPY does far more than drive hunger — it serves as a critical brake on the stress response, dampening anxiety, modulating pain perception, and influencing cardiovascular tone. The...

rs17166496 Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygous GC carriers show a ~23% reduction in type 1 diabetes risk in the WTCCC genome-wide association study, though the 5q31 causal gene remains disputed due to extensive regional linkage disequilibrium

Chromosome 5 Risk Allele C Category Appetite & Obesity Tags Type 1 Diabetes, Autoimmune, Immune Function, Diabetes, Inflammation

The chromosome 5q31 region is one of the most gene-dense immunological hotspots in the human genome, packed with interleukin genes (IL4, IL5, IL13) and other immune regulators across hundreds of kilobases of strong linkage disequilibrium. rs17166496 sits within an intron of FSTL4 (Follistatin-Like 4), a secreted...