Research — GeneOps

rs77924615 — UMOD PDILT-UMOD regulatory variant

Chromosome 16 Risk Allele G Category Uric Acid & Kidney Function Kidney Disease, Kidney Function, Hypertension, Blood Pressure, Cardiovascular, Chronic Kidney Disease

Intronic regulatory variant physically located in PDILT that controls uromodulin (Tamm-Horsfall protein / UMOD) expression — the strongest genetic predictor of longitudinal kidney function decline in the general population. Catalog gene attribution is UMOD (the regulatory target and clinically relevant gene); physical location is PDILT (adjacent gene in the same LD block).

rs858518 — SHBG SHBG intronic regulatory variant

Chromosome 17 Risk Allele A Category Reproductive Hormones Testosterone, Estrogen, Fertility, Reproductive Health, PCOS, Insulin Resistance, Hormones

Intronic variant within the SHBG gene that participates in a haplotype (with rs727428) lowering circulating sex hormone-binding globulin levels, increasing bioavailable testosterone and estradiol; lower SHBG is linked to PCOS susceptibility, insulin resistance, type 2 diabetes risk, and female VTE risk mediated by estradiol

rs16947078 — TBX21 TBX21 T-bet asthma variant

Chromosome 17 Risk Allele G Category Allergy & Atopic Disease Autoimmune, Asthma, Immune Function, T-Cell Regulation, Inflammation, Lung Health

Intergenic regulatory variant near TBX21 associated with allergic asthma susceptibility; G allele homozygosity carries markedly elevated asthma risk through reduced T-bet-driven Th1 immune tone

rs17651213 — MAPT Exon 3 Splice Regulator

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

Intronic MAPT variant that directly regulates tau exon 3 splicing via differential hnRNP F/Q binding; the G allele (H1 haplotype) reduces exon 3 inclusion, elevating 4-repeat tau isoforms and increasing risk for Parkinson's disease, PSP, and corticobasal degeneration

rs1799999 — PPP1R3A Asp905Tyr

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Insulin Resistance, Diabetes, Metabolic, Muscle, Energy Metabolism, Fat Metabolism

Missense variant in the skeletal muscle glycogen-targeting subunit of protein phosphatase 1 (PP1); reduces effective PP1 activity at the glycogen particle, impairing insulin-stimulated glycogen synthesis and increasing type 2 diabetes risk

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

rs2069526 — CYP1A2 -739T>G

Chromosome 15 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Caffeine, Antidepressants, Smoking Interaction

Intronic CYP1A2 variant near the 5' end; G allele is associated with altered metabolic ratios for CYP1A2 substrates including escitalopram

rs2234693 — ESR1 PvuII

Chromosome 6 Risk Allele T Category Hormones & Sleep Hormones & Thyroid, Bone Health, Cardiovascular, Estrogen, Menopause

Estrogen receptor alpha intron variant affecting receptor expression and estrogen sensitivity

rs2279525 — PPARGC1A PPARGC1A 3' UTR metabolic association variant

Chromosome 4 Risk Allele C Category Fat Storage & Energy Mitochondria, Energy Metabolism, Fat Metabolism, Insulin Resistance, Adipogenesis, Diabetes

3' UTR variant in the PGC-1alpha gene that may alter PPARGC1A mRNA stability or miRNA regulation, with potential downstream effects on mitochondrial biogenesis and fat oxidation capacity

rs2764264 — FOXO3

Chromosome 6 Risk Allele T Category Longevity & Aging Longevity, Aging, Cardiovascular, Diabetes, Oxidative Stress, Inflammation, Ovarian Reserve, Menopause

Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding site; the longevity-associated C allele confers protection in male centenarians independent of rs2802292