Research — GeneOps

rs4149056 — SLCO1B1 *5

Chromosome 12 Risk Allele C Category Pharmacogenomics Drug Metabolism, Statins, Cardiovascular, Liver, Bilirubin

Statin transport - affects muscle side effect risk with statins

rs7202877 — CTRB1

Chromosome 16 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Pancreatic Beta Cell, Insulin, Energy Metabolism, Pharmacogenomics, Metabolic Health

Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expression and GLP-1-stimulated insulin secretion; T allele carriers have mildly impaired incretin-driven beta-cell response and modestly elevated type 2 diabetes risk

rs828903 — MTHFD2

Chromosome 2 Risk Allele G Category Methylation & Detox Methylation, Folate, B Vitamins, Embryo Development, Cancer Risk, Mitochondria

Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-carbon metabolism and linked to folate receptor autoantibody levels and embryonic development risk

rs3194051 — IL7R I356V

Chromosome 5 Risk Allele G Category Neurology & Cognition Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Immune & Autoimmune

Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associated with modestly increased multiple sclerosis susceptibility under a recessive model; unlike rs6897932, no functional splicing or expression mechanism has been established

rs324013 — STAT6

Chromosome 12 Risk Allele T Category Allergy & Atopic Disease JAK-STAT Signaling, Inflammation, Autoimmune, Asthma, Skin Health, T-Cell Regulation

Promoter variant in STAT6 that alters transcription factor binding; the T allele is associated with reduced IFN-γ production in response to herpes simplex virus, forming a 6.87-kb haplotype with rs167769 that confers a 3.3-fold increased risk of eczema herpeticum in atopic dermatitis patients

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

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

rs34311866 — TMEM175

Chromosome 4 Risk Allele C Category Neurology & Cognition Parkinson's, Neurodegeneration, Autophagy, Neurological Risk, Cognitive Decline, Neuroprotection

Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regulation, slows alpha-synuclein clearance, and increases risk for Parkinson's disease and REM sleep behavior disorder

rs35699176 — ZNF77 ZNF77 Q100*

Chromosome 19 Risk Allele A Category Allergy & Atopic Disease Lung Health, Asthma, Infection Risk, Immune Defense, Respiratory Infections, Inflammation

Nonsense variant truncating ZNF77 at codon 100, impairing bronchial epithelial barrier integrity and increasing susceptibility to Aspergillus fumigatus airway colonization