Research — GeneOps

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

rs55785340 — CYP3A4 *2

Chromosome 7 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Statins, Cardiovascular, Immunosuppressants, Ancestry-Specific

Missense variant reducing CYP3A4-mediated nifedipine clearance, causing elevated exposure to statins and other CYP3A4 substrates in heterozygous carriers

rs941798 — PTPN1

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Insulin Resistance, Diabetes, Insulin, Fasting Glucose, Leptin, Metabolic Syndrome

Intronic PTPN1 variant tagging a haplotype block associated with reduced insulin sensitivity, higher fasting insulin, and elevated lipids through altered PTP1B expression

rs3751143 — P2RX7 Glu496Ala

Chromosome 12 Risk Allele C Category Neurology & Cognition Pain Sensitivity, Inflammation, Immune Function, Neuroinflammation, Cardiovascular, Infectious Disease

Loss-of-function variant in the P2X7 receptor that reduces inflammatory response

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

rs55886062 — DPYD *13

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

No-function DPYD star allele (I560S) causing severe DPD deficiency; one of four CPIC high-priority variants requiring 50% fluoropyrimidine dose reduction

rs3756059 — SNCA

Chromosome 4 Risk Allele A Category Neurology & Cognition Neurological Risk, Parkinson's, Neurodegeneration, Sleep, Brain Health

Intronic SNCA variant at the 5′ locus associated with REM sleep behavior disorder risk — the strongest genetic prodromal marker for Lewy body neurodegeneration

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 and aspirin-induced asthma risk in Asian populations.

rs55897648 — CYP2E1 *3 (Val389Ile)

Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Liver Health, Alcohol, Carcinogen Metabolism

CYP2E1*3 missense variant with no demonstrated change in enzyme activity

rs3785883 — MAPT H1h Sub-haplotype Tag

Chromosome 17 Risk Allele A Category Neurology & Cognition Neurological Risk, Parkinson's, Tau Pathology, Brain Health, Aging, Dementia

Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a configuration distinct from H1c — independently associated with non-tremor dominant Parkinson's disease at OR 2.9 after Bonferroni correction, and sharing no meaningful linkage disequilibrium with the H1c-defining markers rs242557 or rs2471738 (r² ≈ 0.01)