Research — GeneOps

rs2235321 — TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)

Chromosome 22 Risk Allele G Category Vitamins & Nutrient Absorption Iron, Micronutrients, Vitamins, Erythropoiesis, Minerals

Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron status; the G allele tags a haplotype with modestly elevated hepcidin and reduced iron absorption efficiency

rs2269475 — AIF1 AIF1 Arg69Trp

Chromosome 6 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Inflammation, Rheumatoid Arthritis, Macrophage, MHC Antigen Presentation, Immune Response

Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expressed calcium-binding protein in the MHC class III region, associated with rheumatoid arthritis susceptibility and systemic sclerosis

rs2282679 — GC

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

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

rs25487 — XRCC1 R399Q

Chromosome 19 Risk Allele T Category Cancer Risk Cancer Risk, DNA Repair, Base Excision Repair, Smoking Interaction, Cancer Screening

Base excision repair scaffold protein that coordinates repair of oxidative DNA damage and single-strand breaks; the Gln variant reduces repair efficiency at the PARP-binding domain

rs267607352 — VWF W1745C

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

Missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M von Willebrand disease) — standard VWF panels appear normal while platelet adhesion at injury sites is impaired

rs4225 — APOC3 APOC3 3'UTR c.*71G>T

Chromosome 11 Risk Allele G Category Atherogenic Lipoproteins Triglycerides, Cardiovascular, Lipid Metabolism, Fat Metabolism, Heart Disease, Inflammation

3'UTR variant that creates a microRNA-4271 binding site; the T allele suppresses APOC3 translation, lowering triglycerides and modestly reducing coronary heart disease risk

rs4293393 — UMOD

Chromosome 16 Risk Allele A Category Uric Acid & Kidney Function Kidney Disease, Hypertension, Gout, Uric Acid, Cardiovascular

UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-sensitive hypertension, and gout risk with paradoxical kidney stone protection

rs563694 — ABCB11 G6PC2/ABCB11 fasting glucose locus

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

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

rs5985 — F13A1 Val34Leu

Chromosome 6 Risk Allele A Category Coagulation & Clotting Factors Blood Clotting, Thrombosis, Fibrinolysis, Cardiovascular, Thrombophilia, Venous Health

Missense variant in Factor XIII A subunit; the Leu34 allele accelerates thrombin-driven FXIII activation, producing finer and more fibrinolysis-susceptible fibrin clots — moderately protective against venous thromboembolism and myocardial infarction, with context-dependent effects at elevated fibrinogen

rs72755295 — EXO1 EXO1 mismatch repair variant

Chromosome 1 Risk Allele G Category Gamete Quality & DNA Repair Fertility, Ovarian Reserve, Menopause, DNA Repair, Mismatch Repair, Breast Cancer

Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhancer activity; the G allele is associated with earlier age at natural menopause (ovarian ageing) and elevated breast cancer risk through upregulated EXO1 expression