Research — GeneOps

rs2731672 Regulatory tag variant in the Factor XII locus associated with plasma FXII activity levels and aPTT; the T allele tags lower Factor XII expression, which is paradoxically protective against arterial and venous thrombosis

Chromosome 5 Risk Allele C Category Coagulation & Clotting Factors Tags Thrombosis, Cardiovascular, Blood Clotting, Heart Disease, Inflammation, Fibrinolysis, Thrombophilia

Most coagulation variants are straightforward: a gene changes, clotting goes up or down. Factor XII defies that logic. The gene at the heart of the contact activation pathway(https://pubmed.ncbi.nlm.nih.gov/25696835/) was long thought inconsequential in humans — people completely lacking Factor XII don't bleed...

rs28777 Intronic pigmentation variant in SLC45A2 strongly associated with skin color, hair color, and tanning ability; the light-pigmentation allele increases sun sensitivity and melanoma risk

Chromosome 5 Risk Allele A Category Skin & Eyes Tags Pigmentation, Melanoma Risk, Sun Sensitivity, Skin Cancer, UV Protection

SLC45A2 encodes a melanosomal membrane-associated transporter protein(https://pubmed.ncbi.nlm.nih.gov/18563784/) that controls melanin synthesis. The rs28777 variant is an intronic SNP in SLC45A2 that emerged from a genome-wide association study of over 10,000 Europeans(https://pubmed.ncbi.nlm.nih.gov/18483556/) as...

rs3024491 Intronic IL10 variant that reduces anti-inflammatory cytokine production, independently raising susceptibility to gut inflammation, H. pylori infection, and asthma severity

Chromosome 1 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Tags Inflammation, Immune & Autoimmune, Gut Health, Autoimmune

Interleukin-10 (IL-10) is the immune system's master brake pedal. Without adequate IL-10, the body's inflammatory responses run longer and harder than necessary — a pattern that underlies conditions ranging from inflammatory bowel disease to asthma to susceptibility to bacterial infections. rs3024491 sits in intron...

rs34557412 Missense variant in the TACI receptor's cysteine-rich ligand-binding domain that dominantly disrupts BAFF/APRIL signaling; the strongest non-HLA association with infection susceptibility and a known cause of common variable immunodeficiency and IgA deficiency

Chromosome 17 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags B-Cell Signaling, Innate Immunity, Infection Risk, Autoimmunity, Immune System, Immune Response

Every antibody that defends you against a repeated infection — from the IgA that coats your gut to the IgG that neutralises a pathogen in your blood — depends on a molecular conversation between B cells and their survival signals. TACI (Transmembrane Activator and Calcium modulator and cyclophilin ligand...

rs34612342 Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~28-fold increased colorectal cancer risk, while heterozygous carriers have a modest CRC risk elevation (OR ~1.3)

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

Every cell division exposes DNA to oxidative damage from normal metabolism. One of the most frequent and dangerous lesions is 8-oxoguanine() (8-oxoG), which mispairs with adenine during replication. The MUTYH gene encodes a DNA glycosylase that patrols freshly replicated DNA, scanning for adenines that have been...

rs3733590 Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele is markedly enriched in East Asian populations (~41%) compared to Europeans (~5%) and may influence SLC2A9 splicing, modestly elevating serum uric acid and gout risk via linkage with the broader SLC2A9 risk haplotype

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

Your serum uric acid level is regulated more by your genes than most people realize, and the single most powerful genetic locus for that regulation is the SLC2A9 gene on chromosome 4. SLC2A9 encodes GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/). Variants throughout this gene, both coding and intronic,...

rs3754777 Intronic STK39 variant that increases SPAK kinase expression, enhancing phosphorylation of renal sodium cotransporters NCC and NKCC2 and raising blood pressure through excess sodium reabsorption.

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

Inside the kidney's distal tubule, a molecular switch determines how much sodium your body reclaims from the urine and how much it lets go. That switch is SPAK kinase(https://www.ncbi.nlm.nih.gov/snp/rs3754777), and the rs3754777 variant in its gene quietly dials up its activity — with measurable consequences for...

rs397508075 Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium channel, causing Long QT syndrome type 1 with markedly increased risk of life-threatening arrhythmias during exercise and emotional stress

Chromosome 11 Risk Allele T Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Congenital

The heart's electrical rhythm depends on a precisely timed cascade of ion channel openings and closings. After each beat, the muscle must rapidly repolarize — reset its electrical charge — to be ready for the next. One of the key channels driving this repolarization is the IKs current (slow delayed rectifier...

rs505151 Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL cholesterol and increases coronary artery disease risk through enhanced LDLR degradation

Chromosome 1 Risk Allele G Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, LDL Cholesterol, Lipid Metabolism, Statins

PCSK9 (proprotein convertase subtilisin/kexin type 9) is the liver's master regulator of LDL cholesterol — it acts as a molecular brake on the receptors that pull LDL out of the bloodstream. Most well-known PCSK9 variants are rare, gain-of-function mutations(https://pubmed.ncbi.nlm.nih.gov/15893176/) that...

rs563694 Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regulatory SNPs; the A allele tags higher G6PC2 expression in pancreatic beta cells, elevating the fasting blood glucose set-point by ~0.065 mmol/L per allele

Chromosome 2 Risk Allele A Category Liver Fat Tags Insulin, Metabolic, Diabetes, Liver, Fat Metabolism, Metabolic Health, Fasting Glucose, Pancreatic Beta Cell

Every morning before you eat, your blood glucose settles at a level determined largely by your pancreatic beta cells. These cells continuously sense glucose and calibrate insulin release to keep fasting levels within a narrow window — typically 4.0–5.6 mmol/L. The rs563694 variant sits in an intron of ABCB11 (the...