Research — GeneOps

rs1800789 Upstream promoter variant in fibrinogen beta chain that is associated with lower circulating fibrinogen and a modestly reduced risk of coronary artery disease and atherosclerosis

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

The fibrinogen beta chain (FGB) gene sits at the heart of the coagulation cascade. Fibrinogen, produced in the liver, circulates at 2-4 g/L and is cleaved by thrombin to form fibrin — the structural scaffold of every blood clot. Higher fibrinogen concentrations are an established independent cardiovascular risk...

rs1867277 Functional 5' UTR variant in the FOXE1 thyroid transcription factor that increases papillary thyroid cancer risk by recruiting USF1/USF2 transcription factors to upregulate FOXE1 expression

Chromosome 9 Risk Allele A Category Cancer Risk Tags Thyroid, Cancer Risk, Hormones & Thyroid, Cancer Screening

FOXE1 (Forkhead Box E1), also known as thyroid transcription factor 2 (TTF-2), is one of the master regulators of thyroid gland development. It directs the migration and differentiation of thyroid precursor cells during embryogenesis and maintains thyroid identity in adult tissue. The rs1867277 variant sits 283 base...

rs1990760 Gain-of-function missense variant in the MDA5 viral RNA sensor, enhancing type I interferon production and increasing autoimmune disease risk

Chromosome 2 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Type 1 Diabetes, Innate Immunity, Interferon, Inflammation, Vitiligo

Your cells contain a sophisticated alarm system for detecting viral invaders. One of the most important sensors is MDA5 (Melanoma Differentiation-Associated Gene 5)(https://www.ncbi.nlm.nih.gov/gene/64135), a cytoplasmic helicase that detects double-stranded viral RNA and triggers the production of type I...

rs2004776 Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β transcription factor binding, increases AGT expression, and raises blood pressure by 12–13 mmHg in transgenic models

Chromosome 1 Risk Allele T Category Blood Pressure & Hypertension Tags Blood Pressure, Cardiovascular, Hypertension, Salt Sensitivity, Kidney Function, Heart Disease

Angiotensinogen (AGT) is the only known substrate for renin, the enzyme that initiates the renin-angiotensin-aldosterone system(https://pubmed.ncbi.nlm.nih.gov/31201268/) (RAAS), the body's primary long-term blood pressure regulator. The more AGT your liver produces, the more substrate is available for renin — and...

rs201363394 Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys substitution disrupts protein folding and causes hereditary angioedema type 1 through C1-INH deficiency — heterozygous carriers develop recurrent angioedema attacks, while the rare homozygous state produces severe HAE with additional complement depletion

Chromosome 11 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Tags Complement System, Genetic Counseling, Carrier Status, Inflammation, Autoimmune, Hereditary Angioedema

C1-inhibitor is one of the body's most critical regulatory proteins — a molecular gatekeeper that prevents uncontrolled activation of the complement, contact, and fibrinolytic pathways. When C1-INH fails, the plasma kallikrein-kinin cascade runs unchecked, flooding tissues with...

rs2282679 Intronic GWAS tag variant in the vitamin D binding protein gene, the strongest common genetic determinant of circulating 25-hydroxyvitamin D levels

Chromosome 4 Risk Allele G Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Cardiovascular, Diet, Micronutrients, Mineral Metabolism

Among all common genetic variants in the human genome, rs2282679 in the GC gene() produces the single strongest association with circulating 25-hydroxyvitamin D() levels. This intronic variant does not change the VDBP protein sequence itself, but acts as a tag SNP() for the functional coding variants rs4588 and...

rs2303428 Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon 13 in the mismatch repair gene; the C allele is associated with altered mismatch repair expression and modestly elevated cancer prognosis signals across multiple tumour types; classified benign for Lynch syndrome

Chromosome 2 Risk Allele C Category Gamete Quality & DNA Repair Tags Mismatch Repair, DNA Repair, Genomic Stability, Cancer Risk, RNA Splicing, Chemotherapy

MSH2 (mutS homolog 2)(https://pubmed.ncbi.nlm.nih.gov/30061603/) is the central mismatch recognition protein in the post-replication proofreading machinery. It forms the MutSα complex with MSH6, and together they initiate a repair cascade that culminates in EXO1 (exonuclease...

rs2642438 Protective missense variant that reduces MTARC1 protein stability, cutting hepatic fat accumulation and lowering risk of NAFLD, NASH, and liver-related death

Chromosome 1 Risk Allele G Category Liver Fat Tags Liver Health, Fat Metabolism, Cholesterol, Triglycerides, Diet

Your liver is the body's central hub for fat metabolism, processing everything from dietary fats to the lipids your own cells produce. The MTARC1 gene(https://www.ncbi.nlm.nih.gov/gene/64757) encodes an enzyme anchored in the outer mitochondrial membrane that plays a surprising role in regulating hepatic lipid...

rs28942111 Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominant familial hypercholesterolemia through enhanced LDL receptor degradation; rare but highly penetrant, carriers have severely elevated LDL-C and premature coronary artery disease

Chromosome 1 Risk Allele A Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, LDL Cholesterol, Heart Disease, Atherosclerosis, Statins

PCSK9 (proprotein convertase subtilisin/kexin type 9) is the liver's master dial for LDL cholesterol. When LDL-C is high, PCSK9 activity should stay low, leaving LDL receptors (LDLRs) on hepatocyte surfaces to clear cholesterol from the blood. The S127R gain-of-function mutation throws this dial permanently toward...

rs2911463 Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that senses blood flow shear stress; the G allele is associated with elevated varicose vein risk in genome-wide studies of over 800,000 individuals

Chromosome 16 Risk Allele G Category Arrhythmia & Heart Rhythm Tags Cardiovascular, Endothelial Health, Heart Disease, Blood Pressure, Inflammation, Exercise, Venous Health

Every heartbeat sends a pulse of shear force across your endothelial cells — the single-cell lining that separates your blood from the vessel wall. Healthy endothelium translates this mechanical signal into a cascade of responses: nitric oxide release, cell alignment, vascular tone adjustment, and the structural...