Research — GeneOps

rs7770370 — HLA-DPB1

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune HLA, Infectious Disease, Liver Disease, Vaccination, Immune & Antiviral, Immune Response

Intronic tag SNP in HLA-DPB1 (and upstream of HLA-DPA1); the G allele is strongly associated with chronic hepatitis B infection susceptibility and impaired hepatitis B vaccine antibody response across multiple populations

rs854555 — PON1 PON1 3'UTR variant

Chromosome 7 Risk Allele A Category Vascular Inflammation & Remodeling Cardiovascular, HDL Cholesterol, Oxidative Stress, Antioxidants, Atherosclerosis

Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activity levels; the A allele tracks with lower PON1 antioxidant enzyme function on HDL, increasing vulnerability to LDL oxidation and cardiovascular risk

rs1335532 — CD58

Chromosome 1 Risk Allele A Category Neurology & Cognition Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Neuroinflammation, Immune System

Intronic CD58 variant

rs167769 — STAT6

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

Intronic variant in STAT6 (intron 2) that forms a functional haplotype with rs324011; the T allele increases STAT6 promoter activity and is associated with elevated serum IgE, atopic dermatitis, and eosinophilic esophagitis relapse through enhanced Th2 signaling

rs1800566 — NQO1 Pro187Ser (C609T)

Chromosome 16 Risk Allele A Category Methylation & Detox Detoxification, Phase II, Oxidative Stress, Antioxidants, Cardiovascular, NRF2 Target

Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to its active ubiquinol form; variant causes near-complete loss of enzyme activity

rs1800961 — HNF4A Thr130Ile

Chromosome 20 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Insulin, Metabolic, Liver Health, Insulin Resistance, Metabolic Syndrome

Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional activity; associated with early-onset type 2 diabetes and metabolic syndrome, particularly in Latino and Asian populations

rs1934953 — CYP2C8

Chromosome 10 Risk Allele C Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Cardiovascular, Cancer Risk, Blood Pressure

Intronic CYP2C8 variant linked to hypertension susceptibility, COPD risk, and bladder cancer protection

rs2072114 — FADS2 FADS2 Intron 1 Variant

Chromosome 11 Risk Allele G Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Lipid Metabolism, Cardiovascular, Diet

Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 desaturase activity, shifting the conversion of linoleic acid toward lower arachidonic acid production and modifying LDL-C in a diet-dependent manner.

rs225014 — DIO2 Thr92Ala

Chromosome 14 Risk Allele C Category Hormones & Sleep Hormones & Thyroid, Neurotransmitters, Metabolism, Mood, Fatigue

Affects conversion of inactive T4 to active T3 thyroid hormone in brain, pituitary, and peripheral tissues

rs2402970 — NRF1

Chromosome 7 Risk Allele T Category Longevity & Aging Mitochondria, Longevity, Aging, Aerobic Capacity, Endurance, Fitness

Intronic NRF1 variant associated with baseline differences in ventilatory threshold and running economy — the T allele predicts lower aerobic efficiency independent of training, with a stronger signal (p=0.004) than the companion rs6949152 variant (p=0.047)