Research — GeneOps

rs1000940 Intronic variant in RABEP1 associated with fasting glucose modulation under psychotropic drug treatment; G allele carriers show lower glucose levels, potentially reflecting altered endosomal trafficking of metabolic receptors

Chromosome 17 Risk Allele A Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Metabolic, Pharmacogenomics, Insulin Resistance, Fasting Glucose, Drug Response

The cell's ability to retrieve, sort, and recycle surface receptors is controlled by an elaborate endosomal highway. RABEP1 (Rab GTPase-binding effector protein 1, also known as Rabaptin-5) is a key traffic controller along this highway, coordinating the fusion of clathrin-coated vesicles with early endosomes and...

rs10010131 Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest and most replicated common genetic risk factors for type 2 diabetes, acting through ER stress dysregulation in pancreatic beta cells; the protective A allele tags a haplotype associated with preserved beta-cell insulin secretion

Chromosome 4 Risk Allele G Category Blood Sugar & Diabetes Tags Diabetes, Pancreatic Beta Cell, Insulin, Fasting Glucose, Metabolic, Metabolic Health

Deep in the endoplasmic reticulum of every insulin-producing beta cell sits a protein called wolframin(https://pubmed.ncbi.nlm.nih.gov/16195229/). The gene encoding it, WFS1, was first linked to the rare and severe Wolfram syndrome — a form of juvenile-onset non-autoimmune diabetes combined with optic atrophy,...

rs1001179 Catalase promoter variant affecting hydrogen peroxide clearance and antioxidants defense capacity

Chromosome 11 Risk Allele T Category Methylation & Detox Tags Detoxification, Antioxidants, Oxidative Stress, Inflammation, Methylation, Cardiovascular, Metabolic, Cancer Risk

Catalase is one of the most efficient enzymes in nature, breaking down millions of hydrogen peroxide molecules per second into harmless water and oxygen. Located primarily in cellular structures called peroxisomes(https://pmc.ncbi.nlm.nih.gov/articles/PMC3332217/), catalase serves as the final defense against...

rs1003194 Intergenic regulatory variant ~26 kb downstream of CALCB (calcitonin gene-related peptide beta) that is the first GWAS locus to directly implicate the CGRP-encoding gene region in migraine susceptibility; the minor A allele increases migraine risk and the variant is a cis-eQTL for CALCB — the direct molecular target of anti-CGRP monoclonal antibodies and gepants

Chromosome 11 Risk Allele A Category Neurology & Cognition Tags Migraine, Pain Sensitivity, Brain Health, Neurological Risk, Neurotransmitters, Cardiovascular

Calcitonin gene-related peptide (CGRP) is the central molecular mediator of migraine headache. During a migraine attack, trigeminal neurons release CGRP into the meningeal vasculature, producing the intense throbbing pain, vasodilation, and neurogenic inflammation that define the condition. CGRP is encoded by two...

rs10033464 Intergenic 4q25 variant near KCNN3 and PITX2 that confers an independent risk of atrial fibrillation by modulating atrial electrophysiology

Chromosome 4 Risk Allele T Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Cardiovascular, Heart Disease, Cerebrovascular, Blood Clotting, Thrombophilia

On chromosome 4, near the 25th megabase, sits a cluster of variants that have proven to be among the strongest common genetic determinants of atrial fibrillation (AF) ever discovered. rs10033464 is one of two independently acting signals at this locus, positioned close to both KCNN3 — encoding the small-conductance...

rs10033900 Intronic variant in complement factor I associated with age-related macular degeneration risk through complement dysregulation

Chromosome 4 Risk Allele T Category Longevity & Aging Tags Complement System, Eye Health, Retinal Health, Inflammation, Aging, Immune System

Your complement system is a rapid-response arm of innate immunity that can neutralize pathogens and clear cellular debris within seconds. But like any powerful defense, it requires constant regulation to avoid harming healthy tissue. Complement factor I (CFI)(https://www.ncbi.nlm.nih.gov/gene/3426) is one of the key...

rs10045431 Upstream tagging SNP at the IL12B locus that marks the Th1/Th17 risk haplotype; the C allele is associated with elevated IL-12p40 expression and increased susceptibility to psoriasis, Crohn's disease, and other IL-12/IL-23-mediated autoimmune conditions

Chromosome 5 Risk Allele C Category Psoriasis & Spondyloarthropathy Tags Autoimmune, Inflammation, IBD, Crohn's Disease, Psoriasis, JAK-STAT Signaling

The IL12B gene(https://www.omim.org/entry/161561). This shared subunit means genetic variation at IL12B influences both cytokine axes simultaneously: IL-12 (p40 + p35) drives Th1 differentiation and IFN-γ production, while IL-23 (p40 + p19) sustains Th17 expansion and IL-17 production. Both arms converge on...

rs1004819 Intronic IL-23 receptor variant that increases susceptibility to ankylosing spondylitis and inflammatory bowel disease by enhancing IL-23/Th17 inflammatory signaling

Chromosome 1 Risk Allele A Category IBD & Mucosal Immunity Tags Inflammation, Autoimmune, IBD, Arthritis, Immune & Gut

Your immune system constantly patrols for threats, and a cytokine called interleukin-23 (IL-23)(https://pubmed.ncbi.nlm.nih.gov/27043356/) sits at the center of that patrol. IL-23 works by binding to the IL-23 receptor (IL23R), triggering the differentiation of Th17 cells. rs1004819 is an intronic variant in IL23R...

rs10063949 Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) associated with susceptibility to Crohn disease through impaired ascorbate transport and heightened intestinal oxidative stress; the C allele (minor in Europeans, major in Africans) confers dose-dependent disease risk

Chromosome 5 Risk Allele C Category Vitamins & Nutrient Absorption Tags Vitamin C, Vitamins, Micronutrients, Antioxidants, Gut Health, Inflammation

Vitamin C cannot be synthesised by humans — every milligram must be absorbed from diet through specialised transporters in the gut wall and then reclaimed from the urine before it can be lost. The primary gatekeeper in both places is SVCT1(https://pubmed.ncbi.nlm.nih.gov/18094143/), encoded by SLC23A1 on chromosome...

rs1006737 L-type calcium channel gene variant affecting mood regulation, emotional processing, and psychiatric disorder risk

Chromosome 12 Risk Allele A Category Mood & Behavior Tags Mental Health, Brain Health, Mood, Depression, Anxiety, Stress, Cardiovascular, Calcium, Neuroplasticity

Your CACNA1C gene encodes the alpha-1C subunit(https://medlineplus.gov/genetics/gene/cacna1c/) of L-type voltage-gated calcium channels (Cav1.2) in the brain. These channels act as gatekeepers for calcium influx into neurons during electrical signaling. Calcium isn't just about bones — in the brain, it's a critical...