Research — GeneOps

rs3748067 3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA targeting, modulating IL-17A protein output and Th17-driven inflammatory disease susceptibility

Chromosome 6 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Tags Immune & Autoimmune, Inflammation, Autoimmune, Inflammatory Bowel Disease, Cancer Risk, Bacterial Clearance

While rs2275913 acts like a volume dial at the IL-17A promoter — controlling how much mRNA is produced when T cells activate — rs3748067 works at the other end of the gene, in the 3' untranslated region (3'UTR)(https://pubmed.ncbi.nlm.nih.gov/22537748/). Together, these two variants shape the IL-17A Th17 axis...

rs375882485 Pathogenic missense variant in the C3 domain of cardiac myosin-binding protein C replacing arginine with tryptophan at position 502, disrupting sarcomeric protein-protein interactions and causing hypertrophic cardiomyopathy through an autosomal dominant mechanism.

Chromosome 11 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Arrhythmia, Muscle

Cardiac myosin-binding protein C(https://pubmed.ncbi.nlm.nih.gov/20378854/) is the most frequently mutated protein in hypertrophic cardiomyopathy (HCM), accounting for roughly 40% of all genotype-positive cases. Among the hundreds of MYBPC3 pathogenic variants, the p.Arg502Trp missense mutation stands out: it is the...

rs3775291 Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antiviral interferon responses and increasing susceptibility to several viral infections

Chromosome 4 Risk Allele T Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Immune & Antiviral, Immune System

Toll-like receptor 3 (TLR3)(https://www.ncbi.nlm.nih.gov/gene/7098) stands guard in endosomes and on cell surfaces, scanning for viral invaders. When TLR3 detects dsRNA, it triggers production of type I interferons (IFN-α/β)(https://www.ncbi.nlm.nih.gov/books/NBK459483/) — the body's fastest antiviral alarm. The...

rs3832024 A 2-bp frameshift deletion in FMO3 that creates a premature stop codon at position 197, completely abolishing the enzyme's ability to convert trimethylamine (TMA) to odorless TMAO — the primary genetic cause of trimethylaminuria (fish odor syndrome) in East Asian populations.

Chromosome 1 Risk Allele D Category Vitamins & Nutrient Absorption Tags Metabolic, Diet, Nutrition & Metabolism, Gut Microbiome, Digestive Health, Carrier Status

The smell of fish is produced by trimethylamine(https://pubmed.ncbi.nlm.nih.gov/20301282/). In most people, TMA is rapidly oxidized to odorless trimethylamine N-oxide (TMAO) in the liver by the enzyme FMO3 — flavin-containing monooxygenase 3. When FMO3 fails, TMA accumulates in the bloodstream and is exhaled,...

rs4349859 Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of MICA; the A allele tags HLA-B*27:05 and related European HLA-B27 subtypes with 98% sensitivity and 99% specificity, serving as a genetic proxy for HLA-B27 status and enabling contextualization of ERAP1 × HLA-B27 epistasis in ankylosing spondylitis risk

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Tags Immune System, Autoimmune, HLA, Arthritis, Inflammation, MHC Antigen Presentation

HLA-B27(https://pubmed.ncbi.nlm.nih.gov/37652557/) represents the single strongest genetic association with any common disease known to medicine — individuals carrying this allele face a roughly 60-fold increased risk for ankylosing spondylitis (AS) compared to non-carriers. Direct HLA typing is complex and...

rs4788102 Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor protein in hypothalamic leptin and insulin signaling; A allele is associated with increased BMI and metabolic risk in large GWAS studies

Chromosome 16 Risk Allele A Category Appetite & Obesity Tags Obesity, Appetite, Leptin, Insulin, Metabolic, Fat Metabolism

Your hunger, fullness, and metabolic rate are governed by a constant dialogue between hormones in the bloodstream and neurons in the hypothalamus. At the center of this dialogue sits SH2B1, an adaptor protein that amplifies the signals from two of the most critical metabolic hormones: leptin (the long-term satiety...

rs4848306 IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the A allele is associated with reduced IL-1β promoter activity, potentially lowering the chronic peritoneal inflammatory load implicated in endometriosis pathogenesis

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

The IL1B gene encodes interleukin-1 beta (IL-1β)(https://pubmed.ncbi.nlm.nih.gov/27018977/), one of the most potent drivers of peritoneal inflammation in the body. In endometriosis, IL-1β plays a central and well-documented pathogenic role: it is elevated in the peritoneal fluid of affected women, secreted at higher...

rs5335 3' UTR variant in the endothelin receptor type A gene associated with ambulatory blood pressure variation and cardiovascular outcomes through altered EDNRA expression

Chromosome 4 Risk Allele G Category Blood Pressure & Hypertension Tags Blood Pressure, Cardiovascular, Hypertension, Heart Disease, Endothelial Health, Nitric Oxide

Endothelin-1 (ET-1) is one of the most potent vasoconstrictors in human physiology, acting through two receptor subtypes to control vascular tone, blood pressure, and cardiac remodeling. The endothelin receptor type A(https://www.ncbi.nlm.nih.gov/gene/1909) binds ET-1 with high affinity on vascular smooth muscle...

rs61750579 Pathogenic missense variant in von Willebrand factor A2 domain adjacent to the ADAMTS13 cleavage site; the Asp substitution renders VWF hypersusceptible to proteolysis, depleting high-molecular-weight multimers and causing autosomal dominant type 2A von Willebrand disease with mucocutaneous bleeding

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

Von Willebrand factor is the primary bridge between a damaged blood vessel wall and the platelet plug that stops bleeding. It circulates as a series of multimers of varying size; the largest, high-molecular-weight (HMW) multimers are the most haemostatically active because they unfurl under shear stress to capture...

rs641153 Protective missense variant in complement factor B that reduces alternative pathway C3 convertase formation, lowering AMD risk by roughly half and dampening complement-driven tissue damage

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

Deep inside the MHC class III region on chromosome 6 sits a single letter change that quietly alters how aggressively your immune system attacks your own tissues. CFB R32Q (rs641153) replaces an arginine with a glutamine at position 32 of complement factor B — a serine protease that is the lynchpin of the...