Research — GeneOps

rs3918290 — DPYD *2A

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

Most critical pharmacogenomic variant causing complete loss of DPD enzyme function; increases fatal 5-FU/capecitabine toxicity risk 25-fold without dose reduction

rs5219 — KCNJ11 E23K

Chromosome 11 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Insulin, Metabolic, Drug Metabolism, Cardiovascular, Pharmacogenomics

Controls the pancreatic beta-cell potassium channel that regulates insulin secretion and determines sulfonylurea drug response

rs5751876 — ADORA2A 1976T>C

Chromosome 22 Risk Allele T Category Hormones & Sleep Sleep, Caffeine, Anxiety, Neurotransmitters, Arousal

Adenosine A2A receptor variant that determines individual sensitivity to caffeine's effects on anxiety and sleep

rs9817428 — PPARG PPARG promoter tagSNP

Chromosome 3 Risk Allele A Category Fat Storage & Energy Adipogenesis, Diabetes, Insulin Resistance, Metabolic, Fat Metabolism, Diet

Intronic PPARG tagSNP with cross-ethnic replication for type 2 diabetes risk — located in the master regulator of adipogenesis and insulin sensitivity

rs2602899 — ADH5 ADH5 Promoter NF-kB Variant

Chromosome 4 Risk Allele C Category Allergy & Atopic Disease Asthma, Nitric Oxide, Inflammation, Detoxification, Respiratory Infections, Xenobiotics

Regulatory SNP in the ADH5 promoter at a potential NF-kB binding site; the protective T allele reduces GSNOR expression, preserving the bronchodilator S-nitrosoglutathione and lowering childhood asthma risk

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

rs4148323 — UGT1A1 *6 Gly71Arg

Chromosome 2 Risk Allele A Category Pharmacogenomics Pharmacogenomics, Drug Metabolism, Chemotherapy, Cancer Treatment, Liver Health, Bilirubin, Statins, Cardiovascular, Phase II, Detoxification

Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs including irinotecan; reduced activity causes Gilbert syndrome and severe chemotherapy toxicity

rs564398 — CDKN2B-AS1

Chromosome 9 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Pancreatic Beta Cell, Insulin, Metabolic, Cardiovascular, Cancer Risk

Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS1); the T risk allele impairs glucose-stimulated pancreatic beta-cell proliferation, conferring a modest but independently replicated ~8% increased type 2 diabetes risk per allele

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

rs968567 — FADS2 FADS2 Promoter D6D Activity Variant

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Triglycerides, Inflammation, Cardiovascular

Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression via ELK1 transcription factor binding; the minor T allele elevates D6D activity, accelerating conversion of dietary omega-6 and omega-3 precursors to long-chain PUFAs with downstream effects on arachidonic acid production and inflammatory mediator balance.