Research — GeneOps

rs1871534 Common missense variant in the primary intestinal zinc transporter ZIP4; the Val372 allele (C on the plus strand) reduces ZIP4 surface expression and zinc uptake capacity and reached near-fixation in West Africa through positive selection, likely via pathogen-zinc-starvation advantages; the Leu372 form (G allele) is standard in European and Asian populations.

Chromosome 8 Risk Allele C Category Vitamins & Nutrient Absorption Tags Zinc, Micronutrients, Minerals, Immune Defense, Ancestry-Specific, Metal Metabolism

Every milligram of zinc you absorb from food passes through a single gateway in the intestinal wall: a protein called ZIP4(https://pubmed.ncbi.nlm.nih.gov/38367035/). When ZIP4 stops working entirely — through rare pathogenic mutations — the result is acrodermatitis enteropathica, a severe inherited zinc deficiency...

rs201227603 Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansky-Pudlak syndrome type 3 in homozygotes and conferring carrier status in heterozygotes; enriched in the Ashkenazi Jewish population.

Chromosome 3 Risk Allele A Category Innate Immunity & Infection Defense Tags Autoimmune, Pigmentation, Carrier Status, Blood Clotting, Ancestry-Specific, RNA Splicing, Thrombophilia

The HPS3 gene encodes a subunit of the BLOC-2 complex(https://www.ncbi.nlm.nih.gov/gene/84343), a multi-protein machine that organizes the intracellular trafficking of cargo into specialized organelles — including platelet dense granules (which store ADP and serotonin needed for blood clotting) and melanosomes...

rs2066865 3' region variant in the fibrinogen gamma chain gene that shifts the gamma/gamma-prime isoform ratio, altering clot structure and increasing venous thromboembolism risk by 22-37% per allele in multiple large GWAS

Chromosome 4 Risk Allele A Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombophilia, Thrombosis, Venous Health, Inflammation

Fibrinogen is the blood's primary scaffolding protein — the raw material that thrombin converts into fibrin, the structural backbone of every blood clot. But fibrinogen is not a single molecule. The liver produces two principal isoforms that differ at their gamma chain tip: fibrinogen...

rs2108225 Regulatory variant at the SLC26A3 locus associated with ulcerative colitis susceptibility — SLC26A3 encodes the DRA chloride/bicarbonate antiporter essential for intestinal epithelial barrier function and mucosal immune homeostasis

Chromosome 7 Risk Allele A Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, IBD, Immune & Gut, Gut Barrier, Inflammation, Ulcerative Colitis

The SLC26A3 gene(https://www.ncbi.nlm.nih.gov/gene/1811) encodes the intestine's primary chloride-absorbing transporter. By exchanging luminal chloride for intracellular bicarbonate across the apical membrane of colonocytes and goblet cells, SLC26A3 simultaneously drives chloride absorption and maintains the...

rs2201841 Intronic variant in the IL-23 receptor gene associated with increased risk of psoriasis, psoriatic arthritis, Crohn's disease, and ankylosing spondylitis through altered IL-23 signaling and Th17 cell activation

Chromosome 1 Risk Allele G Category Psoriasis & Spondyloarthropathy Tags Immune & Gut, Autoimmune, Inflammation, Psoriasis, IBD, Arthritis

The IL23R(https://www.ncbi.nlm.nih.gov/gene/149233) gene encodes one half of the receptor complex that captures interleukin-23 — a cytokine that sits at the top of the Th17 inflammatory cascade. When IL-23 binds to its receptor, it triggers a chain of molecular events that expands and sustains populations of Th17...

rs2230199 Missense variant in complement C3 increasing risk of age-related macular degeneration through enhanced complement activation

Chromosome 19 Risk Allele C Category Skin & Eyes Tags Eye Health, Inflammation, Aging, Complement System

The C3 gene encodes complement component 3, the central protein of the complement cascade, an ancient immune surveillance system that clears pathogens and cellular debris. The R102G variant (rs2230199)(https://pubmed.ncbi.nlm.nih.gov/1976733/) substitutes arginine for glycine at position 102, creating the "fast"...

rs2230600 Missense variant in PTPN13 (FAP-1) converting Ile to Met at position 1522; the G allele is associated with impaired tumor-suppressive Fas-mediated apoptosis and elevated squamous cell carcinoma risk

Chromosome 4 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Tags Apoptosis, Cancer Risk, Tumor Suppressor, Immune & Autoimmune, T-Cell Regulation, Inflammation

Every cell in your body carries a molecular self-destruct switch. When that switch is working correctly, damaged or pre-cancerous cells receive a signal through the Fas death receptor(https://pubmed.ncbi.nlm.nih.gov/16187021/) and quietly eliminate themselves. PTPN13 — also known as FAP-1 (Fas-Associated Phosphatase...

rs2268361 Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH level modulation; the C allele tags a GWAS-identified risk haplotype that elevates basal FSH and increases PCOS risk, while the T allele is protective and associated with normal FSH levels

Chromosome 2 Risk Allele C Category Fertility & Ovarian Function Tags Fertility, Reproductive Health, Ovarian Reserve, PCOS, Gonadotropins, Hormones

The follicle-stimulating hormone receptor gene (FSHR) harbors three well-studied variants that influence reproductive outcomes: the two missense variants rs6165 (Ala307Thr) and rs6166 (Asn680Ser) in the coding region, and this intronic variant rs2268361, located 5,590 bases upstream of exon 7 within intron 6...

rs2278651 Intronic variant in SLC30A1 (ZnT1), the primary plasma-membrane zinc efflux transporter; the minor A allele may influence transporter expression and has been associated with modestly altered intracellular zinc homeostasis relevant to immune signaling, erythropoiesis, and cellular antioxidant capacity

Chromosome 1 Risk Allele A Category Iron & Mineral Transport Tags Zinc, Nutrition & Metabolism, Immune Function, Erythropoiesis, Oxidative Stress, Minerals

Zinc is not simply a passive micronutrient. It functions as a catalytic cofactor in more than 300 enzymes, a structural component of over 1,000 zinc-finger proteins, and a dynamic signaling ion — shifting rapidly between cellular compartments to coordinate immune responses, DNA repair, insulin crystallization, and...

rs2280714 Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA expression and marks the risk haplotype block associated with lupus, systemic sclerosis, and Sjögren syndrome

Chromosome 7 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Interferon, Lupus, Connective Tissue, Autoimmune, Inflammation

Interferon Regulatory Factor 5 (IRF5) is a master transcription factor controlling the production of type I interferons (IFN-α and IFN-β) and pro-inflammatory cytokines including TNF-α, IL-6, and IL-12. The rs2280714 variant sits approximately 5 kb downstream of the IRF5 coding sequence in the 3' regulatory region....