Research — GeneOps

rs1611115 Strongest known genetic determinant of dopamine beta-hydroxylase activity, controlling the dopamine-to-norepinephrine ratio

Chromosome 9 Risk Allele T Category Mood & Behavior Tags Cognition, Dopamine, Neurotransmitters, Cardiovascular, Stress

Your brain runs on a delicate balance between dopamine() and norepinephrine(). The enzyme that converts one into the other is dopamine beta-hydroxylase (DBH), and the rs1611115 variant in its promoter region is the single most powerful genetic determinant of how much DBH your body makes. Carriers of the T allele...

rs16890979 Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile substitution) reduces urate reabsorption in the proximal tubule, lowering serum uric acid and conferring protection against hyperuricemia and gout

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Diet, Cardiovascular, Kidney Function

Your kidneys filter roughly 700 mg of uric acid per day, and the majority of it is reabsorbed back into your bloodstream before it reaches the urine. The gene SLC2A9 encodes GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/), the protein responsible for most of that reabsorption. A common missense variant in this gene...

rs17085007 Regulatory variant at the chromosome 13q12 locus that tags a region upstream of USP12, a deubiquitinase controlling CD4+ T cell activation and NF-κB signaling via BCL10 stabilization; the C risk allele increases susceptibility to ulcerative colitis and predicts risk of disease relapse in carriers

Chromosome 13 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Tags Ulcerative Colitis, Inflammatory Bowel Disease, IBD, T-Cell Regulation, Autoimmune, Inflammation

Your immune system continuously balances attack against tolerance. In the colon, that balance is maintained largely by CD4+ T cells that must activate against genuine pathogens while staying restrained toward the gut's own bacterial residents. A variant at chromosome 13q12 — just upstream of the gene encoding USP12,...

rs17321515 Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides, LDL, and total cholesterol, increases NAFLD risk, and is associated with longer sleep duration through a pleiotropic link between hepatic lipid metabolism and sleep regulation

Chromosome 8 Risk Allele A Category Triglycerides & Fatty Acids Tags Triglycerides, Cardiovascular, Cholesterol, Fat Metabolism, Diet

The TRIB1 gene(https://www.ncbi.nlm.nih.gov/gene/10221) sits at one of the most robustly replicated lipid loci in the human genome. The rs17321515 variant, located approximately 30–44 kb downstream of TRIB1 on chromosome 8q24, is one of the most-studied SNPs at this locus. Unlike the companion variant rs2954021...

rs17482078 Missense variant (Arg725Gln) in the ERAP1 peptide-binding domain that reduces aminopeptidase activity; the T allele tags the low-activity Hap10 haplotype, which is protective against ankylosing spondylitis and psoriasis but recessively increases Behçet's disease risk — especially in HLA-B*51 carriers

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

Every cell in your body runs a continuous self-inventory. Proteins are broken down, and peptide fragments are trimmed to the exact 8–9 amino acid length required for MHC class I(https://pubmed.ncbi.nlm.nih.gov/21743469/) loading. ERAP1 is the trimming enzyme — an endoplasmic reticulum aminopeptidase that shaves...

rs1784692 An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T allele is associated with PCOS susceptibility (genome-wide significant in a 2018 meta-analysis of 10,074 cases) and with polycystic ovarian morphology, likely through disrupted retinoic acid–responsive transcriptional regulation of follicular development

Chromosome 11 Risk Allele T Category Fertility & Ovarian Function Tags PCOS, Ovarian Reserve, Fertility, Hormones, Reproductive Health, Steroid Hormones

Polycystic ovary syndrome is the most common endocrine disorder in women of reproductive age, affecting 8–13% globally, yet its genetic architecture has been assembled only slowly. The 2018 genome-wide meta-analysis by Day et al. added three new pieces to the puzzle, one of which sits in the...

rs1800407 Eye color modifier gene influencing green and hazel eye color through melanosome pH regulation

Chromosome 15 Risk Allele T Category Skin & Eyes Tags Skin & Eyes, Eye Color, Pigmentation, Melanin, Skin Cancer, UV Protection

Your eyes get their color from melanin, the same pigment that determines skin tone. But eye color isn't just about how much melanin you make—it's also about how efficiently your cells can package it(https://elifesciences.org/articles/04543). The OCA2 gene encodes the P protein, a melanosomal transporter that...

rs1800790 Promoter variant in the fibrinogen beta-chain gene that upregulates FGB transcription, raising plasma fibrinogen levels and increasing cardiovascular and thrombotic risk

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

Fibrinogen is the body's master clotting scaffold. When thrombin cleaves it during an injury response, it polymerizes into fibrin — the structural backbone of every blood clot. But fibrinogen is not merely a clotting protein: it also rises sharply during inflammation as an acute-phase...

rs187084 Promoter variant that alters transcription factor binding and TLR9 expression, affecting innate immune responses to bacterial and viral CpG DNA across infections, autoimmunity, and transplant outcomes

Chromosome 3 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Autoimmune, Immune System

Toll-like receptor 9 (TLR9)(https://www.ncbi.nlm.nih.gov/gene/54106) operates like an immune burglar alarm — sensitive to microbial molecular signatures that mammalian cells don't carry. The rs187084 variant sits in the TLR9 promoter, approximately 1,486 base pairs upstream of the coding sequence, where it falls...

rs2004640 Intronic variant creating alternative splice site that increases type I interferon production and autoimmune disease risk

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

The rs2004640 variant in the IRF5 (interferon regulatory factor 5) gene is one of the most well-established genetic risk factors for autoimmune diseases. This single nucleotide change in the first intron of IRF5 creates an alternative splice donor site(https://pubmed.ncbi.nlm.nih.gov/16642019/), fundamentally...