Research — GeneOps

rs3783550 Intronic variant within IL1A (Interleukin-1 alpha) associated with endometriosis risk in Japanese and European GWAS; the G allele increases susceptibility by tagging IL-1α-driven peritoneal inflammation at a locus replicated across ancestries

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

The IL1A gene encodes Interleukin-1 alpha(https://pubmed.ncbi.nlm.nih.gov/25336714/), one of the body's most potent alarm signals for tissue damage. In endometriosis, IL-1α plays a central pathological role: it promotes adhesion of ectopic endometrial fragments to the peritoneal surface, stimulates blood vessel...

rs387906674 Rare pathogenic missense variant in protein S causing hereditary type III protein S deficiency, with carriers at elevated risk for venous thromboembolism and white matter stroke

Chromosome 3 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Thrombophilia, Blood Clotting, Cardiovascular, Thrombosis, Blood Thinners, Women's Health

Protein S, encoded by the PROS1 gene on chromosome 3, is a vitamin K-dependent(https://pubmed.ncbi.nlm.nih.gov/21172841/) plasma glycoprotein that acts as a cofactor for activated protein C (APC) and tissue factor pathway inhibitor (TFPI). Together these brake the coagulation cascade — specifically disabling factors...

rs475688 Intronic regulatory variant in the URAT1 renal urate transporter gene; the T allele upregulates SLC22A12 expression, increasing urate reabsorption and raising serum uric acid, with TT individuals at substantially higher gout risk

Chromosome 11 Risk Allele T Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Kidney Function, Diet, Cardiovascular, Nutrition & Metabolism

Every day, your kidneys filter roughly 7–8 grams of uric acid from your blood. Almost all of it — about 90% — is immediately reabsorbed back into circulation, with just 10% making it into the urine. The protein responsible for most of this reabsorption is URAT1(), encoded by SLC22A12. The rs475688 variant sits deep...

rs4775936 Regulatory variant in the CYP19A1 aromatase gene that alters estrogen biosynthesis, influencing circulating estradiol levels, bone mineral density, and response to aromatase inhibitor therapy.

Chromosome 15 Risk Allele T Category Reproductive Hormones Tags Aromatase, Estrogen Metabolism, Bone Health, Breast Cancer, Fertility, Cancer Treatment

Aromatase is the enzyme that converts androgens (testosterone, androstenedione) into estrogens (estradiol, estrone). Without it, no estrogen is made. The CYP19A1 gene encodes aromatase and is expressed in multiple tissues — ovaries, bone, breast, brain, and adipose. rs4775936, located in a negative regulatory...

rs4840568 Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine kinase expression, raising risk for systemic lupus erythematosus and autoimmune thyroid disease, particularly in Asian populations

Chromosome 8 Risk Allele A Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Lupus, Immune System, Immune & Autoimmune, B-Cell Signaling, Thyroid

BLK (B-lymphoid tyrosine kinase)(https://www.ncbi.nlm.nih.gov/gene/640) is a critical regulator of B-cell receptor signaling and B-cell tolerance. rs4840568 is a 2kb-upstream variant in the same FAM167A-BLK regulatory region as the more extensively studied rs13277113, and the two variants sit roughly 1.8 kilobases...

rs4961 Alpha-adducin missense variant that increases renal tubular sodium reabsorption by stabilizing Na+/K+-ATPase at the cell surface, causing salt-sensitive blood pressure elevation and impaired endothelial vasodilation in Trp allele carriers

Chromosome 4 Risk Allele T Category Blood Pressure & Hypertension Tags Hypertension, Salt Sensitivity, Blood Pressure, Kidney, Cardiovascular, Endothelial Health

Alpha-adducin is a cytoskeletal protein that does something quietly consequential in your kidney tubules: it controls how many sodium pumps sit active at the cell surface. The ADD1 gene (adducin 1)(https://pubmed.ncbi.nlm.nih.gov/18398333/) in kidney cells. When adducin stabilizes the...

rs558269137 Frameshift deletion eliminating filaggrin protein, the second most common European FLG null allele — causes ichthyosis vulgaris and atopic dermatitis, and together with R501X enables complete filaggrin deficiency in compound heterozygotes

Chromosome 1 Risk Allele D Category Skin & Eyes Tags Skin Health, Immune & Gut, Inflammation, Food Sensitivity, Asthma, Immune System

The skin's outermost layer depends on a single protein — filaggrin — to hold it together, retain water, and keep allergens out. The FLG gene encodes profilaggrin(https://pubmed.ncbi.nlm.nih.gov/16550169/). The 2282del4 variant (c.22822285del, deletion of four nucleotides in the coding sequence) shifts the reading...

rs5756506 Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, influencing iron status through the hepcidin-regulatory pathway

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

Within the TMPRSS6 gene — the same gene that harbors the well-characterized Ala736Val variant (rs855791) — lies a cluster of common intronic polymorphisms that collectively fine-tune the activity of matriptase-2(). The rs5756506 variant, located deep in intron 13 of TMPRSS6 approximately 320 bases upstream of the...

rs6063 Rare missense variant in the fibrinogen gamma chain that disrupts fibrin polymerization, producing structurally abnormal clots and a substantially elevated risk of venous thromboembolism

Chromosome 4 Risk Allele T Category Coagulation & Clotting Factors Tags Thrombosis, Blood Clotting, Cardiovascular, Heart Disease, Thrombophilia, Inflammation

Fibrinogen is the central protein of blood clot formation. When a vessel is damaged, thrombin cleaves fibrinogen into fibrin monomers that spontaneously polymerize into a mesh-like scaffold, which factor XIIIa then cross-links into a stable clot. The fibrinogen gamma chain...

rs6511720 Common regulatory variant in the LDL receptor gene affecting LDLR expression, baseline LDL cholesterol levels, and statin response

Chromosome 19 Risk Allele G Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, Statins, Diet, Pharmacogenomics

The low-density lipoprotein receptor (LDLR) is the primary gateway through which your liver removes cholesterol from the bloodstream. Mutations in this gene cause the majority of familial hypercholesterolemia cases(https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.574474/full), leading to...