Research — GeneOps

rs57137919 — ABCG1

Chromosome 21 Risk Allele G Category Triglycerides & Fatty Acids Triglycerides, Cholesterol, Atherosclerosis, Cardiovascular, Macrophage, HDL Cholesterol

ABCG1 promoter variant that reduces transporter expression, impairing macrophage cholesterol efflux and increasing macrophage apoptosis — yet paradoxically associated with higher HDL-C, lower LDL-C, and reduced coronary artery disease risk in population studies

rs6721961 — NFE2L2

Chromosome 2 Risk Allele T Category Longevity & Aging Oxidative Stress, Antioxidants, Detoxification, Longevity, Aging, Cardiovascular

Promoter variant reducing NRF2 transcriptional activity by >50%, impairing the master antioxidant response that controls glutathione synthesis, phase II detoxification, and cytoprotective gene expression

rs743572 — CYP17A1 -34 T>C

Chromosome 10 Risk Allele G Category Hormones & Sleep Hormones & Thyroid, Reproductive Health, Steroid Hormones, PCOS, Metabolic Health

Promoter variant affecting 17α-hydroxylase expression and steroid hormone synthesis, influencing cortisol, DHEA, androgen, and estrogen production

rs2243250 — IL4 IL4 -589C>T

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Asthma, Autoimmune, Inflammation, Immune Response, Immune System, Immune & Autoimmune

Promoter polymorphism 589 bases upstream of the IL-4 transcription start site; the T allele enhances NFAT-1 binding, elevates IL-4 transcription, raises serum IgE, and amplifies Th2-skewed immune responses underlying allergic asthma, atopic dermatitis, and allergic rhinitis

rs242557 — MAPT H1c Sub-haplotype Tag

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

Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, elevating risk for progressive supranuclear palsy and corticobasal degeneration through increased 4-repeat tau expression

rs3788205 — SLC19A1 SLC19A1 intronic variant

Chromosome 21 Risk Allele T Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine

Intronic marker in the folate transporter gene

rs5030868 — G6PD G6PD Mediterranean

Chromosome X Risk Allele A Category Blood Sugar & Diabetes Erythropoiesis, Oxidative Stress, Drug Metabolism, Pharmacogenomics, Diabetes, Ancestry-Specific, Drug Safety

Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less than 10% residual enzyme activity and high risk of acute hemolytic anemia from drugs, fava beans, and infections; prevalent across Mediterranean, Middle Eastern, and South Asian populations

rs5956 — CD36

Chromosome 7 Risk Allele A Category Triglycerides & Fatty Acids Fat Metabolism, Cardiovascular, Cholesterol, Metabolic, Diet

Synonymous coding variant in CD36 fatty acid translocase; the minor A allele is associated with lower atheromatous plaque thickness and altered left ventricular diastolic parameters.

rs6949152 — NRF1

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

Intronic variant in the master mitochondrial biogenesis transcription factor — the G allele is associated with lower slow-twitch muscle fiber proportion and reduced aerobic training adaptability

rs76428106 — FLT3 FLT3 Intronic Splice Variant

Chromosome 13 Risk Allele C Category Hormones & Sleep Thyroid, Autoimmune, Autoimmunity, Immune System, Hormones & Thyroid, Hormones

Low-frequency intronic variant in FLT3 that creates a cryptic splice site, truncating the receptor in 30% of transcripts and doubling plasma FLT3 ligand per allele, substantially increasing risk of autoimmune thyroid disease (Hashimoto's) and other autoimmune conditions