Research — GeneOps

rs314276 Intronic variant in LIN28B associated with puberty timing — the C allele may be linked to earlier menarche in females and earlier puberty milestones in males, with implications for reproductive window length and cumulative estrogen exposure

Chromosome 6 Risk Allele C Category Fertility & Ovarian Function Tags Puberty Timing, Fertility, Reproductive Health, Hormones, Uterine Fibroids

LIN28B encodes an RNA-binding protein that functions as a central regulator of developmental timing in mammals. By suppressing let-7 microRNAs(https://pubmed.ncbi.nlm.nih.gov/19448623/), LIN28B activity holds the hypothalamic-pituitary-gonadal (HPG) axis in a pre-pubertal state. When LIN28B expression falls below a...

rs3212227 IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype with rs6887695; T allele (coding-strand A, risk) drives 12.5-fold higher IL12B expression and substantially elevated psoriasis susceptibility; G allele is protective and predicts better ustekinumab response

Chromosome 5 Risk Allele T Category Psoriasis & Spondyloarthropathy Tags Immune & Autoimmune, Psoriasis, Inflammation, Inflammatory Bowel Disease, Biologic Therapy, Skin

The IL12B gene(https://www.omim.org/entry/161561). Both arms of this axis converge on psoriatic inflammation — IL-12/Th1 activates keratinocytes via IFN-γ while IL-23/Th17 drives epidermal hyperproliferation through IL-17. rs3212227 is a 3'-UTR variant at chr5:159315942 (GRCh38) in the IL12B gene. Because IL12B is...

rs35829419 Gain-of-function missense variant in the NLRP3 inflammasome sensor that elevates baseline IL-1beta and IL-18 production, increasing susceptibility to gout, inflammatory bowel disease, and metabolic inflammation

Chromosome 1 Risk Allele A Category Innate Immunity & Infection Defense Tags Immune & Gut, Inflammation, Gout, IBD, Innate Immunity, Omega-3

The NLRP3 gene encodes the central sensing component of the NLRP3 inflammasome(https://pubmed.ncbi.nlm.nih.gov/22529966/) — the innate immune platform responsible for producing IL-1beta and IL-18(https://www.ncbi.nlm.nih.gov/gene/114548/), two of the most potent pro-inflammatory cytokines in the body. Q705K...

rs369504169 Rare missense variant in the PROC gene encoding protein C; the A allele substitutes histidine for arginine at position 42, partially impairing anticoagulant function and increasing venous thromboembolism risk 3-7 fold in heterozygous carriers

Chromosome 2 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Thrombophilia, Thrombosis, Blood Thinners, Genetic Counseling

Protein C is the body's front-line anticoagulant brake. Released into circulation as an inactive precursor, it is activated when thrombin binds thrombomodulin(https://www.uniprot.org/uniprotkb/P04070/entry) on the vessel wall. Activated protein C (APC) then cleaves and inactivates coagulation factors Va and...

rs4580649 Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A allele tags a protective haplotype associated with more efficient renal urate excretion, while the G allele (population major in East Asians where gout prevalence is highest) tags reduced clearance and elevated serum uric acid — following the same population gradient as other SLC2A9 protective intronic variants

Chromosome 4 Risk Allele G Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Kidney Function, Micronutrients, Cardiovascular

The kidneys filter and selectively reabsorb uric acid constantly — roughly 700 mg per day passes through the glomerular filter, and the balance between reabsorption and excretion determines your serum urate level. The SLC2A9 gene, encoding the GLUT9 transporter, is the single largest genetic determinant of this...

rs4704397 Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with serum TSH levels; each A allele raises TSH by ~0.13 mIU/L through reduced cAMP degradation in thyroid tissue, with consequences for ovulatory function, implantation, and pregnancy maintenance

Chromosome 5 Risk Allele A Category Reproductive Hormones Tags Thyroid, Fertility, Reproductive Health, Hormones, Women's Health

The thyroid gland operates on a simple feedback loop: the pituitary releases TSH (thyroid-stimulating hormone), TSH binds receptors on thyroid follicular cells, and those cells respond by producing T4 and T3. The signal amplifier inside that thyroid cell is cyclic AMP (cAMP) — and the enzyme that silences it once it...

rs4810485 Intronic variant in CD40 regulating B-cell surface expression; the G allele drives higher CD40 levels and is shared risk across rheumatoid arthritis, SLE, Crohn's disease, and multiple sclerosis

Chromosome 20 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags Immune & Autoimmune, Rheumatoid Arthritis, Inflammation, Bone Health, Immune & Gut, B-Cell Signaling, Autoimmune, Thyroid, Biologic Therapy

CD40 is a transmembrane receptor expressed on B cells, monocytes, dendritic cells, and other antigen-presenting cells. When its ligand CD40L (CD154) — displayed on activated T helper cells — binds CD40, it triggers a cascade that drives B-cell proliferation, antibody class switching, and germinal center formation....

rs482843 Intronic CTH variant where GG homozygotes show significantly elevated preeclampsia risk; the G allele tags reduced placental H₂S production and impaired vascular adaptation during pregnancy, with no significant association with essential hypertension

Chromosome 1 Risk Allele G Category Blood Pressure & Hypertension Tags Cardiovascular, Preeclampsia, Endothelial Health, Homocysteine, Oxidative Stress, Hypertension

Hydrogen sulfide (H₂S) is not just an industrial gas — it is one of the body's own signaling molecules, produced enzymatically in vascular tissue and the placenta to regulate blood flow, suppress inflammation, and protect against hypoxic injury. The enzyme responsible in the cardiovascular system is cystathionine...

rs524952 Intergenic variant near GJD2 affecting myopia risk and axial eye growth through retinal gap junction signaling

Chromosome 15 Risk Allele A Category Skin & Eyes Tags Eye Health, Vision, Neurotransmitters

The rs524952 variant sits in a regulatory region near the GJD2 gene on chromosome 15q14, one of the first and most consistently replicated genetic associations with myopia(https://pubmed.ncbi.nlm.nih.gov/35262731/). GJD2 encodes connexin 36 (Cx36), a gap junction protein that forms channels between neuronal cells in...

rs5756504 Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte parameters through the hepcidin-regulatory pathway, independently contributing to iron status alongside the rs855791 coding variant

Chromosome 22 Risk Allele C Category Iron & Mineral Transport Tags Iron, Micronutrients, Cardiovascular, Vitamins

Iron absorption is not a passive process — it is under continuous hormonal control by hepcidin(), and TMPRSS6 is the gene whose job it is to keep that hormone in check. TMPRSS6 encodes matriptase-2(), the molecular brake on hepcidin production. While the coding-change variant rs855791 (Ala736Val) alters the...