Research — GeneOps

rs3829462 — LIPC

Chromosome 15 Risk Allele C Category Triglycerides & Fatty Acids Fat Metabolism, Cholesterol, Cardiovascular, Triglycerides

Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (Phe356) is the GRCh38 reference but represents the minority allele globally, while the common A allele (Leu356) is found in ~97% of people and classified benign

rs4684847 — PPARG PPARG cis-regulatory variant (PR domain recruitment)

Chromosome 3 Risk Allele C Category Fat Storage & Energy Adipogenesis, Fat Distribution, Insulin Resistance, Metabolic Health, Cardiovascular, Obesity

Intronic cis-regulatory PPARG variant where the C allele recruits PR domain repressor proteins, reducing PPARG transcription in adipose tissue and impairing adipocyte differentiation, fat distribution, and insulin sensitivity

rs6198 — NR3C1 9β

Chromosome 5 Risk Allele C Category Longevity & Aging Longevity, Aging, HPA Axis, Stress Response, Cardiovascular, Mental Health

3'UTR variant that increases glucocorticoid-resistant GRβ isoform expression, blunting cortisol signaling and HPA axis negative feedback

rs7501331 — BCO1 Ala379Val

Chromosome 16 Risk Allele T Category Vitamins & Nutrient Absorption Vitamin A, Beta-Carotene, Diet, Eye Health

Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele, contributing to "poor converter" status for plant-based vitamin A

rs8192678 — PPARGC1A Gly482Ser

Chromosome 4 Risk Allele T Category Fitness & Body Fitness, Endurance, Diabetes, Cardiovascular, Mitochondria, Longevity, Aerobic Capacity, Fat Metabolism, Insulin Resistance

Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha transcriptional activity, impairing mitochondrial production, aerobic capacity, and metabolic adaptation

rs20541 — IL13 R130Q

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Asthma, Inflammation, Autoimmune, Skin Health, Biologic Therapy, T-Cell Regulation

Missense variant in IL-13 that enhances Th2 cytokine signaling, elevating serum IgE and increasing risk for atopic dermatitis, allergic rhinitis, and eczema; the minor A allele (Q130) confers risk while the common G allele (R130) is protective for atopic disease

rs2236224 — MTHFD1 MTHFD1 R653Q

Chromosome 14 Risk Allele A Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Cardiovascular

Intronic tag variant in MTHFD1 in strong LD with the R653Q missense variant, affecting folate-dependent purine synthesis and maternal neural tube defect risk

rs2471738 — MAPT H1c Sub-haplotype Tag (rs2471738)

Chromosome 17 Risk Allele T Category Neurology & Cognition Neurological Risk, Parkinson's, Dementia, Tau Pathology, Brain Health, Aging

Intronic MAPT variant whose T allele co-defines the H1c sub-haplotype, independently conferring OR 1.85 for progressive supranuclear palsy and OR 2.07 for corticobasal degeneration in the same meta-analysis validating rs242557

rs28399433 — CYP2A6 *9 (TATA box)

Chromosome 19 Risk Allele C Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Smoking, Smoking Related, Cancer Treatment, Carcinogen Metabolism

Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine metabolism and altering response to several cancer and antiretroviral drugs

rs659366 — UCP2

Chromosome 11 Risk Allele C Category Longevity & Aging Longevity, Aging, Mitochondria, Oxidative Stress, Cardiovascular, Insulin Resistance

Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupling protein expression; the T allele (A in coding-strand notation) increases UCP2 transcription, lowering ROS production and reducing insulin resistance, while C-allele homozygotes have lower UCP2 activity and carry higher oxidative-stress burden