Research — GeneOps

rs2872507 — IKZF3

Chromosome 17 Risk Allele A Category Allergy & Atopic Disease Autoimmune, Inflammation, Immune System, Asthma, Crohn's Disease, Type 1 Diabetes

17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effects — risk for autoimmune diseases (RA, Crohn's, Graves') but protective for asthma

rs3851179 — PICALM

Chromosome 11 Risk Allele C Category Neurology & Cognition Alzheimer's, Neurological Risk, Cardiovascular

Variant in the PICALM gene affecting amyloid-beta clearance across the blood-brain barrier and Alzheimer's disease risk

rs4244285 — CYP2C19 *2

Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Blood Thinners, Proton Pump Inhibitors, Antidepressants

No-function CYP2C19 variant affecting PPIs, clopidogrel, and some antidepressants

rs4684059 — HRH1

Chromosome 3 Risk Allele C Category Methylation & Detox Histamine, Food Sensitivity, Inflammation, Pharmacogenomics, Immune Function

Intronic variant in the histamine H1 receptor gene associated with altered receptor expression and histamine sensitivity

rs6017340 — HNF4A HNF4A Regulatory Variant

Chromosome 20 Risk Allele C Category Blood Sugar & Diabetes Liver Health, Liver Disease, Liver, Energy Metabolism, Metabolic, Cholesterol

Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation through modified HNF4A-driven CYP7A1 expression; linked to primary biliary cholangitis progression in a single Japanese cohort study

rs700518 — CYP19A1 Val80

Chromosome 15 Risk Allele T Category Hormones & Sleep Hormones, Estrogen, Bone Health, Breast Cancer, Drug Metabolism

Synonymous variant in aromatase gene affecting estrogen production, bone density, and response to aromatase inhibitors

rs99780 — FADS2

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

Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase activity and the efficiency of converting linoleic acid and alpha-linolenic acid into long-chain omega-6 and omega-3 fatty acids

rs28730619 — ADH5

Chromosome 4 Risk Allele C Category Allergy & Atopic Disease Asthma, Inflammation, Nitric Oxide, Lung Health, Oxidative Stress, Detoxification

Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma risk; homozygotes carry ~60% higher relative risk, linked to impaired S-nitrosothiol homeostasis and airway hyperresponsiveness

rs3865444 — CD33 CD33 microglial Alzheimer's variant

Chromosome 19 Risk Allele C Category Neurology & Cognition Alzheimer's, Neuroinflammation, Neurodegeneration, Cognitive Decline, Immune Function, Brain Health

Promoter-region variant that modulates CD33 expression on microglia — the protective A allele reduces surface CD33, enhancing microglial clearance of amyloid-beta and conferring modest protection against late-onset Alzheimer's disease

rs4646438 — CYP3A4 *6 (17776insA / frameshift)

Chromosome 7 Risk Allele I Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Immunosuppressants, Transplant, Ancestry-Specific, Phase I

Frameshift insertion in CYP3A4 exon 9 that produces a truncated, non-functional enzyme — carriers have essentially no CYP3A4 activity from this allele, making them poor metabolizers for tacrolimus, cyclosporine, midazolam, and ~50% of prescribed drugs