Research — GeneOps

rs72709458 — TERT

Chromosome 5 Risk Allele T Category Endometriosis & Uterine Health Fertility, Reproductive Health, Women's Health, Cancer Risk

Intronic TERT variant that increases uterine fibroid (leiomyoma) risk through impaired telomere maintenance and genome stability, independent of the longevity TERT variants

rs763361 — CD226 Gly307Ser

Chromosome 18 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, T-Cell Regulation, Type 1 Diabetes, Multiple Sclerosis, Immune & Autoimmune, Rheumatoid Arthritis

Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNAM-1) that raises the activation threshold of adaptive immunity and confers risk for multiple autoimmune diseases including type 1 diabetes, multiple sclerosis, SLE, and rheumatoid arthritis

rs7746808 — IL23A

Chromosome 6 Risk Allele C Category Psoriasis & Spondyloarthropathy Immune & Autoimmune, Psoriasis, Inflammation, Biologic Therapy, Skin, Inflammatory Bowel Disease

Intergenic variant near the IL23A locus associated with psoriasis and psoriatic arthritis susceptibility through the IL-23/Th17 inflammatory axis

rs9340799 — ESR1 XbaI polymorphism

Chromosome 6 Risk Allele G Category Reproductive Hormones Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, IVF

Intronic variant in the estrogen receptor alpha gene (intron 1) associated with endometriosis-related infertility, IVF outcomes, severe pre-eclampsia risk, and ovarian reserve; the G allele increases endometriosis-related reproductive risk while showing some population-specific protective effects for fractures and male fertility

rs17250932 — TBX21 TBX21 Promoter Variant

Chromosome 17 Risk Allele T Category Allergy & Atopic Disease Asthma, T-Cell Regulation, Inflammation, Immune Response, Skin Health, Autoimmune

Upstream promoter variant in TBX21 that reduces neonatal IL-5 and IL-13 secretion after innate immune stimulation; the minor C allele dampens Th2 cytokine output at birth, suggesting a role in early-life immune programming and atopic susceptibility through reduced TBX21 transcriptional drive

rs1784931 — SORL1 SORL1 intron 39 variant

Chromosome 11 Risk Allele A Category Neurology & Cognition Alzheimer's, Neurodegeneration, Dementia, Cognition, Brain Health, Aging

Intronic variant in the sortilin-related receptor that tags a 3′ haplotype block linked to reduced SORL1 brain expression; the A allele is associated with lower receptor levels and modestly increased Alzheimer's disease risk

rs1800909 — GGH c.16T>C (p.Cys6Arg)

Chromosome 8 Risk Allele G Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Detoxification

Signal-peptide missense variant that alters GGH subcellular targeting; C allele carriers show modestly lower plasma homocysteine and altered methotrexate pharmacokinetics

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

rs2070672 — CYP2E1

Chromosome 10 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Liver, Liver Health, Alcohol, Carcinogen Metabolism

CYP2E1 promoter variant affecting enzyme expression and susceptibility to acetaminophen hepatotoxicity, alcohol-induced liver injury, and drug-induced hepatotoxicity

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