Research — GeneOps

rs2227284 — IL4 IL4 T+2979G

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Immune & Autoimmune, Autoimmune, Immune Function, Infection Risk

Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele impairs IL-4 transcriptional regulation, elevating Th2-skewed inflammatory tone and increasing susceptibility to asthma, allergic rhinitis, and severe infections, while the G allele is associated with reduced atopic disease risk

rs28399433 — CYP2A6 *9 (TATA box)

Chromosome 19 Risk Allele C Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Smoking, Smoking Related, Cancer Treatment, Carcinogen Metabolism

Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine metabolism and altering response to several cancer and antiretroviral drugs

rs366631 — GSTM1 Tag SNP for gene deletion

Chromosome 1 Risk Allele A Category Methylation & Detox Detoxification, Glutathione, Phase II, Oxidative Stress, Xenobiotics, Diet, Carcinogen Metabolism, NRF2 Target

Tag SNP proxy for GSTM1 gene deletion status — the most common pharmacogenomic variant worldwide, eliminating a Phase II detoxification enzyme that conjugates glutathione to environmental carcinogens

rs4607517 — GCK GCK fasting glucose GWAS variant

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Fasting Glucose, Pancreatic Beta Cell, Diabetes, Insulin, Energy Metabolism, Metabolic Health

Common variant near glucokinase that raises fasting glucose by impairing the pancreatic glucose-sensing threshold; each A allele adds ~0.062 mmol/L to fasting glucose and modestly reduces beta-cell function

rs4939883 — LOC105372112

Chromosome 18 Risk Allele T Category Triglycerides & Fatty Acids HDL Cholesterol, Cholesterol, Fat Metabolism, Cardiovascular, Lipid Metabolism, Triglycerides

Intronic variant near LIPG whose T allele increases circulating endothelial lipase levels and is associated with lower HDL cholesterol at genome-wide significance across multiple large cohorts

rs5882 — CETP I405V

Chromosome 16 Risk Allele G Category Longevity & Aging Longevity, Aging, Cholesterol, Cardiovascular, Alzheimer's, HDL Cholesterol, Lipid Metabolism

Missense variant that reduces CETP enzyme activity, raising HDL-C and enlarging lipoprotein particles; the Val/Val (GG) genotype is enriched in Ashkenazi Jewish centenarians and associated with slower cognitive decline

rs6166 — FSHR Asn680Ser (N680S)

Chromosome 2 Risk Allele C Category Hormones & Sleep Reproductive Health, Hormones, Fertility, PCOS, Pharmacogenomics

Affects FSH receptor sensitivity, determining ovarian response to FSH stimulation and influencing fertility treatment dosing in both women and men

rs2228145 — IL6R Asp358Ala

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

Missense variant in the IL-6 receptor that increases receptor shedding; the C allele (358Ala) is paradoxically protective for coronary heart disease but increases risk for asthma and allergic disease, and predicts differential response to tocilizumab

rs2230912 — P2RX7 Gln460Arg

Chromosome 12 Risk Allele G Category Neurology & Cognition Neuroinflammation, Mental Health, Mood, Brain Health, Sleep, Inflammation

Missense variant in the C-terminal domain of the P2X7 receptor that disrupts normal receptor dimerisation when coexpressed with the wild-type allele, with the G (Arg460) allele associated with major depressive disorder in a large meta-analysis and with higher multiple sclerosis severity scores; the A (Gln460, low-activity) allele is independently linked to rapid cycling in bipolar disorder

rs316019 — SLC22A2 Ala270Ser

Chromosome 6 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Diabetes, Metformin, Kidney

Reduces OCT2 organic cation transporter function in the kidney, lowering metformin renal clearance and conferring partial protection against cisplatin ototoxicity and nephrotoxicity