Research — GeneOps

rs104894805 Pathogenic missense variant in emerin that weakens nuclear lamina interactions, causing X-linked Emery-Dreifuss muscular dystrophy with progressive cardiac conduction defects and cardiomyopathy

Chromosome X Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Muscle, Genetic Counseling, Carrier Status, Congenital

Emerin is a protein that anchors to the inner nuclear membrane of muscle cells, acting as a structural scaffold that links chromatin to the nuclear lamina and cytoskeleton(https://pubmed.ncbi.nlm.nih.gov/10393813/). When emerin is absent or dysfunctional, repeated mechanical stress during muscle contraction causes...

rs1050450 Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the Leu variant reduces enzyme activity and responsiveness to selenium

Chromosome 3 Risk Allele A Category Methylation & Detox Tags Detoxification, Oxidative Stress, Selenium, Antioxidants, Cardiovascular, Glutathione, Glutathione Cycle, NRF2 Target

Glutathione peroxidase 1 (GPX1) is the most abundant member of the selenoprotein family(), a group of enzymes that depend on dietary selenium for their activity. GPX1 serves as a frontline defense against oxidative damage by converting hydrogen peroxide (H2O2) and organic hydroperoxides into harmless water and...

rs1058932 CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered epoxyeicosatrienoic acid metabolism and hydroxychloroquine-related renal adverse effects

Chromosome 10 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Cardiovascular, Inflammation, Autoimmune

CYP2C8 is a cytochrome P450 enzyme that metabolizes approximately 5% of all drugs undergoing hepatic phase I oxidation — including the chemotherapy agent paclitaxel, the antidiabetics repaglinide and pioglitazone, and the antimalarials amodiaquine and hydroxychloroquine. Beyond drug metabolism, CYP2C8 plays a...

rs10958409 Intergenic variant near SOX17 at 8q11 that reduces expression of this endothelial transcription factor, increasing susceptibility to intracranial aneurysm and cerebrovascular instability.

Chromosome 8 Risk Allele A Category Vascular Inflammation & Remodeling Tags Cardiovascular, Cerebrovascular, Endothelial Health, Angiogenesis, Blood Pressure, Inflammation

Every blood vessel in the brain depends on a thin inner lining of endothelial cells to remain structurally sound. SOX17(https://pubmed.ncbi.nlm.nih.gov/18997786/) is one of the key proteins that keeps that lining intact. The variant rs10958409, located in a regulatory region near SOX17 on chromosome 8q11, subtly...

rs11052552 Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, associated with elevated type 1 diabetes risk via modulation of T-cell immune responses

Chromosome 12 Risk Allele G Category Appetite & Obesity Tags Type 1 Diabetes, Autoimmune, Immune & Autoimmune, Inflammation, Pancreatic Beta Cell, Immune Function

Type 1 diabetes is an autoimmune disease in which the immune system destroys the insulin-producing beta cells of the pancreas. Genetic predisposition accounts for roughly 50% of T1D liability, and while the HLA region contributes the largest share, dozens of non-HLA loci fine-tune immune tolerance in ways that...

rs11061937 Intronic ADIPOR2 variant associated with cardiovascular disease risk in individuals with impaired glucose tolerance, influencing adiponectin receptor 2 signaling and hepatic lipid and glucose metabolism

Chromosome 12 Risk Allele C Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Cardiovascular, Fat Metabolism, Diabetes, Metabolic Health

Adiponectin is one of the most abundant hormones secreted by fat tissue, and unlike most adipokines its levels paradoxically fall as body fat increases. Low circulating adiponectin is strongly associated with insulin resistance, type 2 diabetes, and cardiovascular disease(https://pubmed.ncbi.nlm.nih.gov/15897298/)....

rs11204971 Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG expression and elevated atopic dermatitis risk — strongly enriched in East Asian populations where the G allele reaches 57% frequency

Chromosome 1 Risk Allele G Category Allergy & Atopic Disease Tags Skin Health, Inflammation, Asthma, Food Sensitivity, Immune System, Autoimmune

Filaggrin is the key structural protein of the outermost skin layer. Encoded by the FLG gene at chromosome 1q21.3, it aggregates keratin filaments into the waterproof matrix of the stratum corneum(https://pubmed.ncbi.nlm.nih.gov/16550169/). When filaggrin levels are reduced — through coding mutations that eliminate...

rs11209026 Strongly protective variant against inflammatory bowel disease and other autoimmune conditions through impaired IL-23 signaling

Chromosome 1 Risk Allele G Category IBD & Mucosal Immunity Tags Inflammation, Autoimmune, Immune System, Gut Microbiome

The IL23R gene encodes the interleukin-23 receptor, a key player in immune regulation that pairs with IL12RB1 to form the functional receptor for IL-23, a pro-inflammatory cytokine. IL-23 drives the differentiation and survival of Th17 cells(https://pubmed.ncbi.nlm.nih.gov/27043356/). The R381Q variant (rs11209026)...

rs1137101 Common leptin receptor variant in the leptin-binding domain affecting satiety signaling and metabolic regulation

Chromosome 1 Risk Allele G Category Hormones & Sleep Tags Nutrition & Metabolism, Obesity, Diabetes, Leptin, Appetite, Satiety, Insulin Resistance, Metabolic Syndrome, Hormones, Reproductive Health

Your leptin receptor (LEPR) gene encodes the protein that receives signals from leptin(https://pubmed.ncbi.nlm.nih.gov/31948470/), the hormone your fat cells release to tell your brain you've had enough to eat. The Q223R variant (rs1137101) is one of the most studied LEPR polymorphisms worldwide — an A-to-G...

rs11549465 Master regulator of cellular oxygen response influencing endurance capacity, training adaptability, and injury resilience in athletes

Chromosome 14 Risk Allele C Category Fitness & Body Tags Fitness, Endurance, Hypoxia, Altitude Training, Injury Risk, Angiogenesis, Metabolism

The HIF1A gene encodes hypoxia-inducible factor 1-alpha(), the master regulator of how your cells respond to low oxygen. When oxygen drops — during intense exercise, at altitude, or in poorly perfused tissues — HIF-1α triggers a coordinated response: it ramps up erythropoietin (EPO)() production to boost oxygen...