Research — GeneOps

rs1051296 3'UTR variant in the reduced folate carrier that affects miR-595 binding, altering cellular folate and methotrexate uptake efficiency

Chromosome 21 Risk Allele A Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Drug Metabolism

SLC19A1 — also known as RFC1 (reduced folate carrier 1) — is the primary gateway through which folate enters your cells. Without efficient RFC1 function, even a diet rich in folate or supplementation with folic acid may not fully replenish cellular folate stores, because the transporter is the rate-limiting step...

rs10811661 Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk allele (major, ~83% globally) impairs cyclin-dependent kinase inhibitor expression and reduces beta-cell proliferative capacity, increasing type 2 diabetes risk by ~24% per allele

Chromosome 9 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Pancreatic Beta Cell, Metabolic, Energy Metabolism, Cardiovascular

Your pancreatic beta cells must periodically replicate to maintain the insulin-producing mass your body needs. At the 9p21 chromosomal locus, a cluster of genes encodes the molecular brakes on cell division — and variants in this region are among the most robustly replicated type 2 diabetes risk factors in the human...

rs10839553 Intronic variant near the cholecystokinin B receptor gene associated with restless legs syndrome risk through dopaminergic signaling in the basal ganglia

Chromosome 11 Risk Allele C Category Neurology & Cognition Tags Dopamine, Neurotransmitters, Sleep, Iron, Parkinson's, Neurological Risk

Restless legs syndrome (RLS) is a neurological disorder affecting up to 10% of older adults, characterized by an irresistible urge to move the legs — typically worse at rest and at night. The core pathophysiology involves dopaminergic dysfunction in the basal ganglia(https://pubmed.ncbi.nlm.nih.gov/17637780/). The...

rs1113129 Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associated with reduced paclitaxel metabolism and increased repaglinide exposure

Chromosome 10 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Chemotherapy, Cancer Treatment, Pain Medication

The CYP2C8 enzyme handles a wide portfolio of important drugs — from paclitaxel chemotherapy to antidiabetic thiazolidinediones, the antimalarial amodiaquine, and common NSAIDs like ibuprofen. rs1113129 is an intronic variant that serves as a tagging marker for CYP2C8 haplotype C(), a low-activity version of the...

rs111517471 Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–intron boundary, causing desmosomal haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic right ventricular cardiomyopathy

Chromosome 12 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Arrhythmia, Genetic Counseling, Carrier Status, Fibrosis

The heart beats more than 2.5 billion times in a lifetime, exerting enormous mechanical stress on the junctions between adjacent cardiac muscle cells. The primary load-bearing structure at these junctions is the desmosome(https://pubmed.ncbi.nlm.nih.gov/15489853/). Plakophilin-2 (PKP2), encoded by the PKP2 gene on...

rs11465804 Intronic IL23R variant in strong linkage disequilibrium with the functional R381Q variant (rs11209026); the minor G allele tags the protective haplotype that dampens IL-23 receptor signalling, reducing risk for ankylosing spondylitis, Crohn's disease, ulcerative colitis, and psoriasis

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Tags Autoimmune, Inflammation, IBD, Arthritis, Psoriasis, T-Cell Regulation

Your immune system walks a narrow line between fighting infection and attacking its own tissues. One of the most critical molecular checkpoints along that line is the IL-23/Th17 axis(https://pubmed.ncbi.nlm.nih.gov/21364948/). Dysregulation of this pathway is a root cause of ankylosing spondylitis (AS), Crohn's...

rs11466750 3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expression in nasal epithelium; the A allele is a risk factor for asthma, atopic dermatitis, and elevated IgE, and co-defines the high-risk genotype together with rs2289277

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Tags Asthma, Immune & Gut, Inflammation, Immune System, Lung Health, Skin Health

Thymic stromal lymphopoietin (TSLP)(https://www.ncbi.nlm.nih.gov/gene/85480) does not just have one genetic dial — it has several. The rs11466750 variant sits in the 3' untranslated region (3'UTR) of exon 4, downstream of the coding sequence, and operates as an expression quantitative trait locus...

rs1151996 Intronic PPARG variant significantly associated with circulating vitamin D levels and longitudinal change in insulin sensitivity

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Vitamin D, Insulin Resistance, PCOS, Adipogenesis, Micronutrients, Metabolic Health

Deep in an intron of PPARG| Peroxisome Proliferator-Activated Receptor Gamma — the master nuclear receptor governing adipocyte differentiation, lipid storage, and insulin sensitization; also the molecular target of thiazolidinedione diabetes drugs such as pioglitazone, rs1151996 sits at chromosome 3, position...

rs11545787 3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the circadian clock in the suprachiasmatic nucleus; the G allele is associated with earlier chronotype (morningness)

Chromosome 17 Risk Allele A Category Hormones & Sleep Tags Circadian, Chronotype, Sleep, Hormones, Brain Health, Stress Response

Every morning, light entering your eyes triggers a cascade that resets your internal clock. At the center of this process — in the suprachiasmatic nucleus (SCN), the brain's master pacemaker — sits a small GTP-binding protein called Dexras1, encoded by the RASD1 gene. Dexras1 acts as a molecular gatekeeper: it...

rs1205 3' UTR variant that modulates baseline C-reactive protein levels and inflammatory status

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Diabetes, Autoimmune

C-reactive protein (CRP) is one of the body's oldest inflammatory markers, a pentameric protein synthesized by the liver in response to interleukin-6 signaling. During acute infection or injury, CRP levels can surge 1,000-fold within 24 hours(https://pubmed.ncbi.nlm.nih.gov/), making it a valuable clinical marker....