Research — GeneOps

rs1008899 — NEDD4L

Chromosome 18 Risk Allele G Category Blood Pressure & Hypertension Hypertension, Blood Pressure, Salt Sensitivity, Kidney, Cardiovascular, Pharmacogenomics

Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination capacity; the G allele associates with reduced blood pressure response to thiazide diuretics and salt-sensitive hypertension risk

rs10093345 — EIF4EBP1 EIF4EBP1 rs10093345

Chromosome 8 Risk Allele T Category Endometriosis & Uterine Health Ovarian Reserve, Fertility, Reproductive Health, mTOR Pathway, Hormones, Women's Health

Intergenic GWAS locus near EIF4EBP1 (encoding the mTOR translation repressor 4E-BP1) where the T allele is associated with modestly lower circulating anti-Müllerian hormone (AMH), a key biomarker of ovarian reserve and fertility timing

rs1010 — VAMP8 VAMP8 3'UTR Variant

Chromosome 2 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Heart Disease, Thrombosis, Aspirin Response, Thrombophilia

Common 3'UTR variant in VAMP8 that disrupts a microRNA-96 binding site, elevating VAMP8 protein levels in platelets and increasing platelet degranulation — associated with modestly elevated myocardial infarction and noncardioembolic stroke risk

rs10150332 — NRXN3

Chromosome 14 Risk Allele C Category Appetite & Obesity Obesity, Appetite, Neurotransmitters, Addiction, Fat Metabolism, Brain Health

Obesity and waist circumference GWAS hit in NRXN3 — links reward-circuit synaptic function to appetite dysregulation and addictive eating patterns

rs1017861 — CHD7 CHD7 AIS susceptibility locus

Chromosome 8 Risk Allele G Category Innate Immunity & Infection Defense Innate Immunity, Embryo Development, Bone & Joint, Infection Risk, Immune System, Sensorineural

Intronic variant in CHD7, a chromatin remodeler critical for neural crest cell and skeletal development; the G allele is associated with susceptibility to adolescent idiopathic scoliosis and may influence neural crest-derived tissue patterning including thymus and inner ear morphogenesis

rs10181656 — STAT4

Chromosome 2 Risk Allele G Category Interferon Signaling & Systemic Autoimmune Lupus, Interferon, Autoimmune, Rheumatoid Arthritis, Cerebrovascular, Inflammation

Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel variant in studies linking STAT4 to ischemic cerebrovascular events and antiphospholipid antibody accumulation in lupus

rs10183486 — TLK1

Chromosome 2 Risk Allele T Category Gamete Quality & DNA Repair Ovarian Reserve, Fertility, Reproductive Health, Menopause, DNA Repair

Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chromatin-assembly kinase; each copy of the T allele may be associated with earlier age at natural menopause by approximately 10 weeks, suggesting a modest influence on ovarian reserve and reproductive lifespan

rs10206753 — IL1RL1 IL1RL1 TIR Domain Risk Haplotype

Chromosome 2 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Biologic Therapy, Innate Immunity, Immune System, Autoimmune

Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the intracellular TIR signaling domain; the T (Leu551) allele tags a four-amino-acid risk haplotype that amplifies IL-33/ST2 receptor signaling, increasing susceptibility to asthma and chronic rhinosinusitis

rs1024611 — CCL2 A-2518G

Chromosome 17 Risk Allele G Category Vascular Inflammation & Remodeling Atherosclerosis, Cardiovascular, Inflammation, Innate Immunity, Immune Response, Infection Risk

Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocyte recruitment to arterial walls and elevating atherosclerotic plaque risk

rs10305420 — GLP1R Pro7Leu

Chromosome 6 Risk Allele T Category Pharmacogenomics Drug Response, Diabetes, Obesity, Pharmacogenomics

GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepatide weight loss efficacy but increases nausea and vomiting risk