Research — GeneOps

rs3126085 Intronic regulatory variant in the filaggrin gene locus that reduces FLG expression and increases atopic dermatitis (eczema) susceptibility; A allele is markedly more common in East Asian and African populations

Chromosome 1 Risk Allele A Category Skin & Eyes Tags Skin Health, Inflammation, Immune System, Skin, Hair & Pigmentation, Skin & Eyes

Your skin's outermost layer — the stratum corneum — acts as a physical barrier keeping allergens and microbes out while locking moisture in. The protein that holds this barrier together is filaggrin(https://pubmed.ncbi.nlm.nih.gov/21666691/), encoded by the FLG gene on chromosome 1q21.3. When FLG function is...

rs353478 An intronic variant in UIMC1 (RAP80), the core ubiquitin-binding subunit of the BRCA1-A complex that recruits BRCA1 to DNA double-strand breaks; the T allele is associated with earlier age at natural menopause, implicating reduced DNA repair fidelity in accelerated ovarian ageing

Chromosome 5 Risk Allele T Category Gamete Quality & DNA Repair Tags Ovarian Reserve, Menopause, DNA Repair, Double-Strand Break Repair, Fertility, Women's Health

Every time a cell divides, its DNA faces the risk of double-strand breaks — the most dangerous class of DNA damage, capable of triggering chromosomal rearrangement or cell death if left unrepaired. The primordial follicle pool that determines a woman's reproductive lifespan is exquisitely sensitive to this damage:...

rs36053993 Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~10-fold increased colorectal cancer risk, while heterozygous carriers have modestly elevated CRC risk (OR ~1.2-1.5)

Chromosome 1 Risk Allele T Category Cancer Risk Tags Cancer Risk, DNA Repair, Base Excision Repair, Colorectal Cancer, Carrier Status

Every day, reactive oxygen species assault your DNA, creating a specific form of damage called 8-oxoguanine() (8-oxoG). Left uncorrected, 8-oxoG pairs with adenine instead of cytosine during DNA replication, producing permanent G:C to T:A transversion mutations(). The MUTYH gene encodes a DNA glycosylase that sits...

rs3733197 BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signaling through altered protein-protein interactions; the G allele (Ala383) confers risk for lupus, rheumatoid arthritis, and systemic sclerosis, with RA risk requiring epistatic co-presence of BLK rs13277113

Chromosome 4 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Lupus, Immune System, Immune & Gut, B-Cell Signaling, Rheumatoid Arthritis

BANK1 (B-cell scaffold protein with ankyrin repeats 1) is a signaling hub expressed exclusively in B cells. It connects the B-cell receptor (BCR) to downstream calcium mobilization by scaffolding LYN kinase, IP3 receptors, and PLCγ2 into a signaling complex that determines how strongly a B cell responds to antigen....

rs3733591 Missense variant in the major renal urate transporter; the Arg265 (C) allele is associated with less efficient urate excretion, elevating serum uric acid and gout risk, with the strongest effects in East Asian populations and in women

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

Your serum uric acid level is not random — it is tightly regulated by transporters in your kidneys, and the strongest single genetic determinant of that regulation is a gene called SLC2A9. Variants in this gene explain more of the variation in uric acid levels than any other locus in the human genome, and the...

rs3755351 Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking and sodium reabsorption, associated with hypertension susceptibility in a Japanese GWAS

Chromosome 2 Risk Allele T Category Blood Pressure & Hypertension Tags Blood Pressure, Cardiovascular, Hypertension, Kidney Function, Renal Function

Beta-adducin(https://www.ncbi.nlm.nih.gov/gene/119) is a cytoskeletal protein that heterodimerizes with alpha-adducin to regulate the cortical actin network beneath the plasma membrane of renal tubular epithelial cells. The adducin complex controls how efficiently the sodium-potassium pump (Na+/K+-ATPase) is...

rs397508077 Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium channel's C-terminal domain, causing autosomal dominant Long QT syndrome type 1 with characteristic exercise- and swimming-triggered cardiac events

Chromosome 11 Risk Allele D Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status

Every heartbeat ends with a brief electrical shutdown: potassium ions rush out of heart muscle cells, repolarizing the membrane and preparing for the next beat. The gene KCNQ1 encodes the pore-forming subunit of the IKs channel(https://pubmed.ncbi.nlm.nih.gov/17470695/), which carries much of this repolarizing...

rs4220 Missense variant in the fibrinogen beta chain that elevates circulating fibrinogen levels and alters fibrin network architecture, with sex-specific effects on hypertension risk in men

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

Fibrinogen is the principal protein of blood clotting. During coagulation, thrombin cleaves fibrinogen into fibrin monomers that polymerize into a mesh-like scaffold, which factor XIIIa cross-links into a mature clot. The fibrinogen beta chain (FGB)(https://pubmed.ncbi.nlm.nih.gov/25156046/) plays a critical role in...

rs5128 Regulates triglyceride metabolism through effects on APOC3 expression in the 3'UTR

Chromosome 11 Risk Allele G Category Atherogenic Lipoproteins Tags Triglycerides, Cardiovascular, Cholesterol, Diet, Fat Metabolism, Inflammation

Apolipoprotein C-III (APOC3) is one of the most powerful regulators of triglyceride metabolism in the human body. This small protein, produced primarily in the liver, acts as a brake on triglyceride clearance | inhibiting both lipoprotein lipase and hepatic uptake of triglyceride-rich particles. The rs5128 variant...

rs58542926 Lipid transport variant that impairs VLDL secretion, creating a paradoxical trade-off between liver and heart health

Chromosome 19 Risk Allele T Category Liver Fat Tags Metabolic, Cardiovascular, Cholesterol, Triglycerides, Liver Health, Diet

TM6SF2 (transmembrane 6 superfamily member 2) is a hepatic protein that facilitates the loading of lipids onto very low-density lipoprotein (VLDL) particles(https://pubmed.ncbi.nlm.nih.gov/33170809/) for export from the liver. The E167K variant (a glutamate-to-lysine substitution at position 167) creates one of the...