Research — GeneOps

rs965513 — FOXE1

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

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

rs3939286 — IL33 IL33 intronic asthma variant

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

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

rs56038477 — DPYD HapB3 tag (c.1236G>A, E412E)

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

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

rs6265 — BDNF Val66Met

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

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

rs76723693 — G6PD G6PD Nefza (c.968T>C)

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

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

rs891512 — NOS3

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

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

rs4129267 — IL6R IL6R intronic multi-trait variant

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

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

rs58194899 — EIPR1

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

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

rs63749884 — PSEN2 M239I

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

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

rs780095 — GCKR GCKR Glucose-Lipid Regulation Variant

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

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