Research — GeneOps

rs4880 Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxification in mitochondria

Chromosome 6 Risk Allele A Category Methylation & Detox Tags Detoxification, Oxidative Stress, Antioxidants, Cardiovascular, Mitochondria

Every cell in your body contains mitochondria, the organelles that generate energy through oxidative phosphorylation. This process inevitably produces superoxide radicals | Superoxide (O2-) is one of the most reactive oxygen species, capable of damaging DNA, proteins, and lipid membranes if not rapidly neutralized...

rs6020611 Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele is associated with elevated total and LDL cholesterol in lean men and tags haplotypes linked to altered insulin signaling and metabolic risk

Chromosome 20 Risk Allele A Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, LDL Cholesterol, Metabolic Health, Cardiovascular, Insulin

Protein tyrosine phosphatase 1B (PTP1B), encoded by the PTPN1 gene on chromosome 20q13, is one of the most rigorously validated drug targets in metabolic medicine. Its job is to put the brakes on insulin signaling: once insulin binds its receptor and activates a phosphorylation cascade, PTP1B dephosphorylates the...

rs743572 Promoter variant affecting 17α-hydroxylase expression and steroid hormone synthesis, influencing cortisol, DHEA, androgen, and estrogen production

Chromosome 10 Risk Allele G Category Hormones & Sleep Tags Hormones & Thyroid, Reproductive Health, Steroid Hormones, PCOS, Metabolic Health

The CYP17A1 gene encodes 17α-hydroxylase/17,20-lyase, a dual-function enzyme essential for synthesizing all steroid hormones except aldosterone. This enzyme sits at a critical junction in the steroid pathway(https://pubmed.ncbi.nlm.nih.gov/21051590/). The rs743572 variant lies in the gene's promoter region, 34 base...

rs2967677 A 3'UTR variant in the CERS4/NFILZ locus on chromosome 19 associated with atopic dermatitis risk (OR=1.06) in a large multi-ancestry GWAS meta-analysis; the T risk allele tags a ceramide-pathway locus where altered sphingolipid signaling impairs skin barrier function and amplifies IgE-mediated allergic inflammation.

Chromosome 19 Risk Allele T Category Allergy & Atopic Disease Tags Skin Health, Autoimmune, Inflammation, Skin, Asthma, Immune Function

Your skin's outermost layer, the stratum corneum, is a lipid-rich barrier that keeps allergens, irritants, and pathogens out while preventing water from evaporating out(https://pubmed.ncbi.nlm.nih.gov/27358008/). Of those lipids, ceramides are the dominant structural component. When ceramide composition shifts,...

rs4149584 Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurrent fever syndrome) and independently raises multiple sclerosis risk ~1.6-fold via stronger TNF binding and altered receptor trafficking

Chromosome 12 Risk Allele T Category Neurology & Cognition Tags Immune & Autoimmune, Inflammation, Neuroinflammation, Multiple Sclerosis, Autoimmune, Anti-TNF Biologics

The TNFRSF1A gene encodes TNF receptor 1 (TNFR1), the primary signaling receptor for tumor necrosis factor-alpha (TNF-α), a master inflammatory cytokine expressed on virtually every nucleated cell in the body. When TNF-α binds TNFR1, it can trigger cell death, inflammation, immune activation, or in certain tissue...

rs4646976 CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to drug-induced liver injury and chemical toxicity

Chromosome 10 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Liver, Pharmacogenomics, Carcinogen Metabolism, Phase I, Environmental Toxins

CYP2E1 is one of the most toxicologically consequential enzymes in the human liver. While it metabolizes only a small fraction of common drugs, it handles a disproportionate share of industrial chemicals, environmental carcinogens, solvents, and the reactive pathway for acetaminophen overdose. The rs4646976 variant...

rs4988235 Lactase persistence - ability to digest lactose (milk sugar) in adulthood

Chromosome 2 Risk Allele G Category Methylation & Detox Tags Lactose, Food Sensitivity, Diet

The ability to digest lactose (milk sugar) in adulthood is one of the most well-known examples of recent human evolution. Most mammals, including most humans historically, lose the ability to produce lactase enzyme after weaning. But populations that domesticated dairy cattle independently evolved mutations that...

rs6031551 Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype block; part of a nine-SNP panel associated with insulin resistance and lower HDL in carriers

Chromosome 20 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Insulin Resistance, Energy Metabolism, Metabolic Health, HDL Cholesterol

HNF4A(https://www.ncbi.nlm.nih.gov/gene/3172) is a master regulator of metabolic gene expression. The gene operates from two distinct promoters: P1, active in adult liver, and P2, active in pancreatic beta cells and fetal liver, each driving different isoforms (HNF4A1–6 from P1; HNF4A7–12 from P2). rs6031551 lies...

rs757081 Missense variant in nucleobindin-2, the precursor protein cleaved to produce nesfatin-1 — a hypothalamic neuropeptide regulating appetite, energy homeostasis, blood pressure, and sleep-wake activity; the G allele is associated with protection against obesity and improved metabolic markers

Chromosome 11 Risk Allele C Category Hormones & Sleep Tags Hormones, Sleep, Appetite, Obesity, Metabolism, Circadian

Nucleobindin-2 (NUCB2), encoded by the NUCB2 gene on chromosome 11, is not itself a signaling peptide — it is a precursor protein. After translation, it is cleaved by prohormone convertases(https://pubmed.ncbi.nlm.nih.gov/20682642/) into three fragments, of which the N-terminal fragment, nesfatin-1, is the...

rs3024971 Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mRNA expression; the G allele is associated with atopic dermatitis risk and elevated Th2 immune tone through the same IL-4/IL-13 signaling pathway that drives allergic disease

Chromosome 12 Risk Allele G Category Allergy & Atopic Disease Tags JAK-STAT Signaling, Asthma, Inflammation, Autoimmune, Skin Health, T-Cell Regulation

STAT6 (Signal Transducer and Activator of Transcription 6)(https://pubmed.ncbi.nlm.nih.gov/29083406/) is among the most consistently replicated susceptibility loci in atopic disease genetics. The rs3024971 variant lies deep within the STAT6 gene at chromosome 12q13.3, near the 3' end of the coding sequence. Like...