Research — GeneOps

rs6133175 Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes carry ~24% higher plasma vitamin C levels than AA homozygotes

Chromosome 20 Risk Allele A Category Vitamins & Nutrient Absorption Tags Vitamin C, Vitamins, Diet, Micronutrients, Antioxidants

Every cell in your body needs vitamin C, but not all cells are equal in their ability to acquire it. Once dietary ascorbate crosses the gut wall and enters the bloodstream, a second transporter system distributes it into tissues where it is needed most — the brain, adrenal glands, eyes, and metabolically active...

rs700651 Intronic variant near the BOLL gene associated with increased intracranial aneurysm susceptibility, replicated across European, Japanese, and Korean populations.

Chromosome 2 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Cerebrovascular, Angiogenesis, Blood Pressure, Inflammation, Heart Disease

Deep within chromosome 2, a modest change in a single DNA letter can shift your lifetime odds of developing an intracranial aneurysm — a balloon-like bulge in a brain artery that, if it ruptures, causes a subarachnoid hemorrhage(https://pubmed.ncbi.nlm.nih.gov/18997786/) affecting roughly 500,000 people annually...

rs72704544 Intronic variant in the neuronal membrane glycoprotein M6a gene — a stress-downregulated scaffold protein critical for dendritic spine formation and synaptic plasticity; G allele associated with anxiety disorders in a major multi-ancestry GWAS

Chromosome 4 Risk Allele G Category Mood & Behavior Tags Anxiety, Neuroplasticity, Stress Response, Mood, Serotonin, Brain Health

Your brain's resilience to chronic stress depends partly on its ability to maintain and remodel the microscopic structures through which neurons communicate. GPM6A(https://pubmed.ncbi.nlm.nih.gov/16286650/) encodes a protein that does exactly this: it scaffolds the formation of dendritic spines and filopodia — the...

rs7647305 GWAS obesity locus near ETV5 — affects hypothalamic appetite regulation and food reward circuitry via glucocorticoid signaling

Chromosome 3 Risk Allele C Category Appetite & Obesity Tags Obesity, Appetite, Dopamine, Cortisol, HPA Axis, Metabolic

ETV5 (E-Twenty-Six Version 5) is an obesity-associated transcription factor expressed in key brain regions that regulate energy balance, appetite, and food reward. The rs7647305 variant sits in the regulatory region upstream of ETV5 on chromosome 3, and the C allele has been consistently associated with increased...

rs854555 Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activity levels; the A allele tracks with lower PON1 antioxidant enzyme function on HDL, increasing vulnerability to LDL oxidation and cardiovascular risk

Chromosome 7 Risk Allele A Category Vascular Inflammation & Remodeling Tags Cardiovascular, HDL Cholesterol, Oxidative Stress, Antioxidants, Atherosclerosis

Paraoxonase-1 (PON1) is a calcium-dependent enzyme bound exclusively to HDL particles(https://pubmed.ncbi.nlm.nih.gov/22030099/) in the bloodstream. Its primary cardiovascular role is preventing LDL from oxidizing — the crucial first step in atherosclerotic plaque formation. rs854555 is an intronic variant within...

rs1805011 Missense variant in the extracellular domain of the IL-4 receptor alpha chain that alters Th2 immune signaling, associated with atopic asthma, rhinitis, and altered IgE responsiveness

Chromosome 16 Risk Allele C Category Allergy & Atopic Disease Tags Immune System, Immune Response, Asthma, Inflammation, Skin Health

The IL4R gene(https://www.ncbi.nlm.nih.gov/snp/rs1805011) encodes the alpha subunit of the IL-4 receptor, which sits at the heart of the body's allergic response circuitry. The rs1805011 variant (also called Glu375Ala in many publications, or Glu400Ala in the canonical full-length transcript) is a missense change in...

rs1805087 Methionine synthase — uses B12 to convert homocysteine to methionine

Chromosome 1 Risk Allele G Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine

Methionine synthase (MTR), also known as MS, catalyzes the final step that converts homocysteine back to methionine using methylcobalamin (active B12) as a cofactor and methylfolate as the methyl donor. This reaction sits at the crossroads of the methylation cycle and is essential for keeping homocysteine levels in...

rs2078371 Regulatory variant in the TSPAN2/NGF locus on chromosome 1p13; the C allele is one of the largest-effect migraine risk variants identified in the genome, with particular elevation of risk for migraine without aura through a peripheral trigeminal sensitization mechanism driven by nerve growth factor signalling

Chromosome 1 Risk Allele C Category Neurology & Cognition Tags Migraine, Chronic Pain, Pain Sensitivity, Neuroinflammation, Brain Health, Pain Management

On chromosome 1p13, two genes sit in close proximity: TSPAN2 (tetraspanin-2, a membrane scaffold protein) and NGF (nerve growth factor, a neurotrophin critical for the development and sensitization of pain-sensing neurons). A regulatory variant between them — rs2078371 — carries one of the largest single-SNP effect...

rs2233580 Missense variant that impairs PAX4's ability to repress insulin and glucagon promoters, reducing beta-cell mass and insulin secretion capacity; strongly associated with type 2 diabetes and younger age of onset in East and Southeast Asian populations

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic, Energy Metabolism, Ancestry-Specific, Insulin Resistance

The pancreatic beta cell is a specialist — it exists for one purpose: sensing blood glucose and releasing exactly the right amount of insulin. Building and maintaining that specialization requires a master transcription factor called PAX4 (paired box gene 4(https://pubmed.ncbi.nlm.nih.gov/37777536/)). When PAX4...

rs2289669 Intronic variant in MATE1, the renal and hepatic metformin efflux transporter; the A allele reduces tubular secretion, prolongs metformin retention, and enhances glucose-lowering response in type 2 diabetes

Chromosome 17 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Diabetes, Metformin

SLC47A1 encodes MATE1 (multidrug and toxin extrusion protein 1), a transporter that pumps organic cations — including metformin — from renal tubular cells and hepatocytes back into the urine or bile. While OCT1 and OCT2 pull metformin into cells from the bloodstream, MATE1 pushes it out the other side. Together,...