Research — GeneOps

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

rs914232 — SLC19A1 RFC1 -43T>C

Chromosome 21 Risk Allele C Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Cardiovascular

Regulatory variant that reduces reduced folate carrier protein expression, impairing folate uptake into cells

rs4794067 — TBX21 TBX21 T-bet Promoter -1993T>C

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Autoimmune, T-Cell Regulation, Immune Response, Inflammation, Asthma, Autoimmunity

Promoter variant ~1993 bp upstream of TBX21 (encoding the T-bet master transcription factor) that reduces TBX21 expression and blunts Th1-mediated immunity; the C allele is associated with altered Th1/Th2 balance, hypothyroidism susceptibility, and aspirin-induced asthma risk in Asian populations.