Research — GeneOps

rs965513 Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroid development, TSH levels, and differentiated thyroid cancer risk

Chromosome 9 Risk Allele A Category Hormones & Sleep Tags Thyroid, Hormones & Thyroid, Cancer Risk, Hormones, Metabolic Health

Among the hundreds of genetic variants studied for thyroid disease, rs965513 at chromosome 9q22.33 stands alone as the strongest common-variant association with thyroid cancer risk ever identified(https://pubmed.ncbi.nlm.nih.gov/19198613/). But this variant does more than influence cancer: it also shifts thyroid...

rs3939286 Regulatory variant ~5 kb upstream of IL33; the T allele is associated with increased asthma susceptibility, hay fever, nasal polyps, and chronic rhinosinusitis across large GWAS meta-analyses, colocalising with the IL-33 expression locus in airway epithelium

Chromosome 9 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Innate Immunity, Lung Health, Autoimmune, Biologic Therapy

Five kilobases upstream of the interleukin-33 gene on chromosome 9, rs3939286 sits in the same regulatory neighbourhood as the well-characterised rs1342326 and rs992969 IL33 risk variants. IL-33(https://pubmed.ncbi.nlm.nih.gov/20860503/) is one of the pivotal upstream activators of atopic inflammation. rs3939286...

rs56038477 Synonymous exon-11 tag SNP for the DPYD HapB3 haplotype; benign on its own but in near-complete linkage with the causal deep intronic splice variant rs75017182 that causes ~50% DPD activity loss

Chromosome 1 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Chemotherapy, Cancer Treatment, Fluoropyrimidine Toxicity, Pyrimidine Catabolism

DPYD encodes dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme(https://pubmed.ncbi.nlm.nih.gov/29152729/) that breaks down fluoropyrimidine chemotherapy drugs. rs56038477 is a synonymous variant in exon 11 of DPYD (c.1236GA, p.Glu412=) that, on its own, has no effect on DPD enzyme activity — it changes...

rs6265 Key neurotrophin variant that controls activity-dependent BDNF release, affecting memory consolidation, neuroplasticity, and stress resilience

Chromosome 11 Risk Allele T Category Neurology & Cognition Tags Cognition, Memory, Neuroplasticity, Brain Health, Exercise, Stress

Brain-derived neurotrophic factor() (BDNF) is the brain's master growth signal for neurons. It drives the formation of new synaptic connections, strengthens existing ones, and supports neuronal survival across the lifespan. The Val66Met variant (rs6265) is the most studied polymorphism in all of neurogenetics — a...

rs76723693 Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD deficiency (~50% residual enzyme activity), associated with hemolytic anemia triggered by fava beans, infections, and specific drugs

Chromosome X Risk Allele G Category Blood Sugar & Diabetes Tags Erythropoiesis, Oxidative Stress, Drug Metabolism, Pharmacogenomics, Diabetes, Ancestry-Specific, Drug Safety

Glucose-6-phosphate dehydrogenase (G6PD) is a housekeeping enzyme that every cell carries, but it matters most in red blood cells — which have no mitochondria and therefore depend on G6PD as their sole source of NADPH(https://medlineplus.gov/genetics/gene/g6pd/). NADPH is the fuel that keeps the antioxidant defense...

rs891512 Intronic NOS3 variant that alters splicing factor binding and is associated with blood pressure and cardiovascular risk, with effects that are amplified by physical activity

Chromosome 7 Risk Allele A Category Methylation & Detox Tags Nitric Oxide, Cardiovascular, Hypertension, Blood Pressure, Endothelial Health, Exercise

Your NOS3 gene encodes endothelial nitric oxide synthase (eNOS), the enzyme that produces nitric oxide (NO)() in the cells lining your blood vessels. Among the many variants studied in this gene, rs891512 stands out for a specific reason: in a study genotyping 11 NOS3 polymorphisms across 726 participants from the...

rs4129267 Intronic IL6R variant in perfect linkage disequilibrium with the functional Asp358Ala coding change; the T allele tags the receptor-shedding haplotype associated with increased asthma and allergic disease risk, reduced CRP, and lower coronary heart disease risk through enhanced IL-6 trans-signaling

Chromosome 1 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Cardiovascular, Autoimmune, Immune Response, Biologic Therapy

Genome-wide association studies routinely identify non-coding variants as the top signals at causal loci. rs4129267 is a textbook case: an intronic variant in the IL-6 receptor gene (IL6R) on chromosome 1q21 that has no direct protein-changing effect, but is in perfect linkage disequilibrium (r²=1) with rs2228145,...

rs58194899 Intronic variant in EIPR1 (endosomal trafficking protein) associated with pain sensitivity via neuropeptide vesicle regulation

Chromosome 2 Risk Allele G Category Pharmacogenomics Tags Pain Sensitivity, Pain Management, Drug Response, Neuroplasticity, Pharmacogenomics

Pain is not simply a signal your nerves generate — it is a sensation your brain calibrates continuously, amplifying or dampening incoming nociceptive input based on the availability of pain-modulating neuropeptides. The EIPR1 gene(https://www.ncbi.nlm.nih.gov/gene/7260) encodes a WD40-domain protein that sits at an...

rs63749884 Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominant familial Alzheimer's disease with variable onset (44–68 years) and documented incomplete penetrance; shifts gamma-secretase cleavage toward longer, aggregation-prone Aβ42 peptides

Chromosome 1 Risk Allele A Category Neurology & Cognition Tags Alzheimer's, Neurological Risk, Neurodegeneration, Dementia, Genetic Counseling, Brain Health

Presenilin-2 (PSEN2)(https://pubmed.ncbi.nlm.nih.gov/34881055/) is one of three genes — alongside PSEN1 and APP — in which pathogenic mutations cause familial early-onset Alzheimer's disease (FAD). PSEN2 mutations are the rarest of the three causes (<5% of all early-onset familial cases) and are distinguished from...

rs780095 Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele increases FOXA2-driven GCKR expression in the liver, boosting GKRP protein levels and glucokinase inhibition, resulting in elevated fasting glucose and the characteristic GCKR metabolic trade-off

Chromosome 2 Risk Allele G Category Blood Sugar & Diabetes Tags Insulin Resistance, Triglycerides, Diabetes, Cardiovascular, Liver Health, Diet

The liver makes a continuous choice: phosphorylate incoming glucose (clearing it from the bloodstream) or conserve it. The enzyme doing the phosphorylating is glucokinase (GCK), and its gatekeeper is glucokinase regulatory protein (GKRP)(https://www.ncbi.nlm.nih.gov/snp/rs780095). rs780095 sits inside an intron of...