Research — GeneOps

rs2815752 Top obesity GWAS variant near NEGR1 — affects hypothalamic appetite regulation and neuronal growth

Chromosome 1 Risk Allele A Category Appetite & Obesity Tags Obesity, Appetite, Diet, Neurotransmitters, Brain Health, Depression

NEGR1 (Neuronal Growth Regulator 1) encodes a GPI-anchored cell adhesion molecule() belonging to the IgLON family. It is strongly expressed in the hypothalamus — the brain region that governs hunger, satiety, and energy balance. The rs2815752 variant sits upstream of NEGR1 and alters its expression, making it one of...

rs28416520 A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of the gene's promoter; the A allele is associated with earlier age at natural menopause via a recessive mechanism, linking piRNA-pathway genome surveillance in oocytes to ovarian reserve and reproductive lifespan

Chromosome 12 Risk Allele A Category Fertility & Ovarian Function Tags Fertility, Ovarian Reserve, Reproductive Health, Genomic Stability, Menopause, Women's Health

Deep inside every primordial follicle, an arrested oocyte faces a biological paradox: it must preserve its genetic integrity across potentially decades before fertilisation, while its genome is under constant threat from parasitic DNA elements called transposable elements(https://pubmed.ncbi.nlm.nih.gov/34349265/)....

rs2856836 3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis susceptibility across multiple ethnic populations; one of eight replicated IL1A locus SNPs linked to the chronic pelvic inflammatory environment that promotes ectopic endometrial implantation.

Chromosome 2 Risk Allele G Category Endometriosis & Uterine Health Tags Endometriosis, Inflammation, Reproductive Health, Immune Response, Uterine Health

The immune system is not a passive bystander in endometriosis — it is an active participant. Interleukin-1 alpha(https://pubmed.ncbi.nlm.nih.gov/20844546/) is one of the most consistently elevated cytokines in the peritoneal fluid of women with endometriosis. The gene encoding IL-1α, IL1A, resides on chromosome...

rs30187 Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosing spondylitis and psoriasis risk through altered MHC class I peptide trimming — effect contingent on HLA-B27 and HLA-C*06:02 carrier status

Chromosome 5 Risk Allele T Category Psoriasis & Spondyloarthropathy Tags Immune System, Autoimmune, Inflammation, Psoriasis, Arthritis, MHC Antigen Presentation

Every cell in your body is under constant immunological inspection. The key checkpoint is MHC class I antigen presentation(https://pubmed.ncbi.nlm.nih.gov/21743469/), and the quality of that display depends critically on an upstream editing step: peptide trimming by ERAP1 (Endoplasmic Reticulum Aminopeptidase...

rs33978901 VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VIII levels, particularly in blood group O carriers, increasing bleeding risk when combined with other VWF variants or low-VWF states

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Carrier Status, Heart Disease, Thrombosis, Thrombophilia

Von Willebrand factor (VWF) is the molecular glue of hemostasis — a large plasma protein that tethers platelets to damaged blood vessel walls and serves as the carrier and protector of coagulation Factor VIII (FVIII). The rs33978901 variant introduces a single amino acid change, replacing arginine with glutamine at...

rs35333564 Intronic indel in the MIR4300 host gene that reduces enhancer activity and MIR4300 expression, increasing risk of progressive spinal curvature in adolescent idiopathic scoliosis

Chromosome 11 Risk Allele I Category Innate Immunity & Infection Defense Tags Bone & Joint, Connective Tissue, Injury Risk, Ancestry-Specific, Growth Factors

Adolescent idiopathic scoliosis (AIS) affects 2–3% of the population and is characterized by a lateral curvature of the spine with no clear structural or neuromuscular cause. Most cases are mild and never require intervention, but roughly 10% of affected adolescents experience progressive curves that exceed 40–50...

rs3889728 Intronic variant in the angiotensinogen (AGT) gene; the T allele has been incorporated into diastolic blood pressure prediction models and sits in a gene whose renin-angiotensin signaling role makes it a plausible contributor to blood pressure regulation during pregnancy, including gestational hypertension and preeclampsia susceptibility

Chromosome 1 Risk Allele T Category Reproductive Hormones Tags Preeclampsia, Blood Pressure, Hypertension, Cardiovascular, Fertility, Reproductive Health

The angiotensinogen gene (AGT) sits at the top of the renin-angiotensin-aldosterone system (RAAS), the body's primary hormonal axis for controlling blood pressure and fluid balance. Angiotensinogen is the sole precursor substrate for all angiotensin peptides(https://pubmed.ncbi.nlm.nih.gov/36718570/). During...

rs4151667 Missense variant in the signal peptide of complement factor B forming the H10 protective haplotype that reduces age-related macular degeneration risk by ~50% and dampens alternative complement pathway activation

Chromosome 6 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Tags Complement System, Eye Health, Autoimmune, Inflammation, Aging, Immune System

Complement factor B (CFB) is the gatekeeping enzyme of the alternative complement pathway — the arm of innate immunity that amplifies inflammatory destruction against pathogens, dead cells, and, in the wrong circumstances, healthy tissue. When factor B binds to C3b(https://pubmed.ncbi.nlm.nih.gov/21555552/) and...

rs4236601 Intergenic variant near caveolin genes affecting primary open-angle glaucoma risk and intraocular pressure regulation

Chromosome 7 Risk Allele A Category Skin & Eyes Tags Eye Health, Cardiovascular, Aging, Nitric Oxide

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide, affecting over 70 million people(https://pubmed.ncbi.nlm.nih.gov/20835238/). The disease typically progresses silently for years before vision loss becomes noticeable. The rs4236601 variant sits in the regulatory region...

rs4519796 Intronic SLC2A9 tag variant tracking the GLUT9 urate-reabsorption haplotype; the A allele follows the same population frequency gradient as established SLC2A9 risk alleles — highest in East Asians (~92%), lowest in Africans (~34%) — tagging elevated renal urate retention and higher gout risk; the G allele tracks the protective, urate-lowering haplotype

Chromosome 4 Risk Allele A Category Uric Acid & Kidney Function Tags Uric Acid, Gout, Kidney Function, Micronutrients, Kidney Stones

Your kidneys filter roughly 700 mg of uric acid every day and then reabsorb most of it — resetting your blood urate baseline with each filtration cycle. The protein that handles the largest share of that reabsorption is GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/), encoded by the SLC2A9 gene on chromosome 4....