Research — GeneOps

rs4845625 Intronic IL6R variant associated with coronary artery disease risk, elevated inflammatory markers (CRP, LDL, ApoB), and altered response to IL-6 receptor-blocking biologics (tocilizumab, sarilumab); the T allele tags a haplotype with subtly enhanced classical IL-6 signaling

Chromosome 1 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Tags Autoimmune, Inflammation, Cardiovascular, Biologic Therapy, Rheumatoid Arthritis, JAK-STAT Signaling

Tucked in the first intron of the interleukin-6 receptor gene, rs4845625 does not change a single amino acid — but it doesn't have to. This intronic variant(https://www.ncbi.nlm.nih.gov/snp/rs4845625) sits within a haplotype block that shapes IL-6 receptor expression levels and, consequently, how strongly IL-6...

rs571312 Regulatory variant upstream of MC4R associated with increased caloric intake, elevated BMI, and obesity risk through reduced MC4R satiety signaling

Chromosome 18 Risk Allele A Category Appetite & Obesity Tags Appetite, Obesity, Metabolic, Diet, Satiety, Leptin

The melanocortin-4 receptor (MC4R) is the master satiety switch of the human hypothalamus. When activated by alpha-melanocyte stimulating hormone (α-MSH), MC4R signals to stop eating and ramp up energy expenditure. rs571312 sits upstream of the MC4R gene in the same regulatory block() as the more extensively studied...

rs5742909 Promoter variant that increases CTLA-4 transcription; T allele carriers show better response to abatacept in rheumatoid arthritis and may have modestly altered autoimmune susceptibility

Chromosome 2 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Tags Immune & Autoimmune, Autoimmune, Thyroid, Arthritis, Rheumatoid Arthritis, Inflammation

CTLA-4 (Cytotoxic T-Lymphocyte Associated Protein 4) is one of the immune system's most critical brakes. While much attention has focused on functional coding variants in CTLA4, the promoter also harbours a polymorphism that influences how much CTLA-4 is made in the first place. rs5742909, the -318C/T variant, sits...

rs61750595 Nonsense mutation creating a premature stop codon in von Willebrand factor; heterozygotes have VWD type 1 (partial VWF deficiency) and homozygotes have VWD type 3, the most severe bleeding disorder caused by near-complete absence of VWF

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

Von Willebrand factor is the body's universal bleeding stop. Released from the walls of blood vessels the moment they are damaged, VWF forms long threads that catch platelets and act as a scaffold for clot formation, while simultaneously carrying and protecting Factor VIII(https://pubmed.ncbi.nlm.nih.gov/20301765/)...

rs61751629 Rare missense variant in the keratinocyte NF-κB scaffold protein CARD14 that may predict favorable response to anti-TNF biologic therapy in psoriasis patients

Chromosome 17 Risk Allele A Category Psoriasis & Spondyloarthropathy Tags Psoriasis, Skin, Inflammation, Biologic Therapy, Anti-TNF Biologics, Autoimmune

CARD14(https://pubmed.ncbi.nlm.nih.gov/22521419/) encodes a scaffold protein expressed primarily in keratinocytes — the cells that form the outer skin barrier. In response to inflammatory signals, CARD14 recruits BCL10 and MALT1(https://pubmed.ncbi.nlm.nih.gov/27071417/) to assemble a signaling complex that...

rs6542095 Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with moderate-to-severe endometriosis risk; the C allele increases risk (OR 1.21) by modulating IL-1α-driven peritoneal inflammation, adhesion formation, and ectopic endometrial tissue implantation

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

The IL1A gene encodes Interleukin-1 alpha(https://pubmed.ncbi.nlm.nih.gov/25336714/), one of the most potent drivers of peritoneal inflammation in the body. In the context of endometriosis, IL-1α plays a central mechanistic role: it promotes adhesion of ectopic endometrial cells to the peritoneum, stimulates...

rs7435196 Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene; the A allele is enriched in European populations and lies approximately 4.8 kb from the established urate-GWAS signal rs11942223, suggesting potential haplotype co-tagging with known SLC2A9 uric acid regulatory signals; direct evidence for an independent effect on serum urate is currently absent, and the variant has no GWAS associations or published citations as of 2026

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

Your kidneys play a central role in regulating uric acid levels, filtering and selectively reabsorbing urate through specialised transporters in the proximal tubule. The SLC2A9 gene encodes GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/). Variants in and around SLC2A9 consistently rank among the strongest genetic...

rs7528684 Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expression on B cells and regulatory T cells, increasing susceptibility to rheumatoid arthritis, Graves' disease, systemic lupus erythematosus, and Hashimoto's thyroiditis

Chromosome 1 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, B-Cell Signaling, T-Cell Regulation, Rheumatoid Arthritis, Thyroid, Inflammation

The FCRL3(https://www.ncbi.nlm.nih.gov/gene/115353) gene produces a surface receptor that modulates how B cells integrate activating and inhibitory signals. Unlike the classical Fc receptors that bind antibody constant regions to clear immune complexes, FCRL3 is expressed constitutively on B cells and plays a role...

rs7571842 Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 associated with salt sensitivity of blood pressure; A allele carriers show amplified blood pressure responses to high dietary sodium.

Chromosome 2 Risk Allele A Category Blood Pressure & Hypertension Tags Blood Pressure, Salt Sensitivity, Hypertension, Cardiovascular, Kidney

Your kidneys decide whether blood pressure rises or stays stable on a high-salt diet. A key player in that decision is NBCe2(https://pubmed.ncbi.nlm.nih.gov/27628629/), encoded by the SLC4A5 gene in the proximal tubule. NBCe2 normally sits quietly in the Golgi apparatus, but when intracellular sodium climbs — as it...

rs7594951 Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor T allele is associated with higher serum DHT levels, with implications for androgenetic alopecia severity, prostate growth, and response to 5-alpha-reductase inhibitors

Chromosome 2 Risk Allele T Category Reproductive Hormones Tags Testosterone, Steroid Metabolism, Hair Loss, Prostate, Reproductive Health, Drug Metabolism

The SRD5A2 gene encodes steroid 5-alpha-reductase type 2, the enzyme that converts testosterone into dihydrotestosterone (DHT) — the androgen driving prostate growth, scalp hair loss, and male external genital development in utero. Variants in SRD5A2 that alter enzyme activity or expression can shift how much DHT an...