Research — GeneOps

rs1532423 — CA1

Chromosome 8 Risk Allele A Category Uric Acid & Kidney Function Zinc, Minerals, Micronutrients, Immune Function, Vitamins

Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 associated with blood zinc levels in genome-wide association studies; CA1 is a zinc-binding metalloenzyme expressed at very high levels in erythrocytes

rs17249754 — ATP2B1

Chromosome 12 Risk Allele G Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Salt Sensitivity, Calcium

Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces PMCA1 expression in vascular tissue, impairing calcium efflux and raising blood pressure — one of the most replicated blood pressure GWAS loci across Asian and European populations

rs17266594 — BANK1 Branch-point splice

Chromosome 4 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Lupus, Immune System, Immune & Gut, B-Cell Signaling, TLR Signaling

Intronic branch-point variant in BANK1 that shifts isoform balance toward full-length protein with intact TIR domain, amplifying TLR-driven B-cell activation and raising risk for SLE and systemic sclerosis

rs17561 — IL1A Ala114Ser

Chromosome 2 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Innate Immunity, Periodontal Disease, Arthritis, Immune System

Missense variant in IL-1α (Ala114Ser) that acts as a common hypomorphic mutation — the minor Serine allele reduces IL-1α secretion by ~50% through post-translational retention; the Serine allele is associated with periodontitis susceptibility and ankylosing spondylitis in Europeans

rs1800386 — VWF Tyr1584Cys

Chromosome 12 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Women's Health, Thrombosis, Reproductive Health, Thrombophilia

Low-penetrance variant in von Willebrand factor that causes enhanced protein clearance; carriers have a 78-fold higher odds of reduced VWF antigen levels and elevated risk of mild bleeding, though only ~24% of heterozygotes have measurably low VWF

rs1800588 — LIPC -514C>T

Chromosome 15 Risk Allele T Category Atherogenic Lipoproteins Cholesterol, Fat Metabolism, Cardiovascular, Triglycerides, Lipid Metabolism

Promoter variant that reduces hepatic lipase activity, raising HDL-C levels but shifting to larger, less protective HDL particles with a genotype-specific dietary fat response

rs1800787 — FGB -148C>T

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

Upstream promoter variant in fibrinogen beta chain that elevates circulating fibrinogen levels and amplifies the acute-phase inflammatory response

rs1861494 — IFNG IFNG Interferon Gamma

Chromosome 12 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Autoimmune, Inflammation, Interferon, Immune Function, Inflammatory Bowel Disease, Infection Risk

Intronic IFNG variant that modulates interferon-gamma expression, with the T allele linked to elevated IFN-γ secretion, greater IBD disease severity, and altered susceptibility to tuberculosis and other immune-mediated conditions

rs1867277 — FOXE1 c.-283G>A

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

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

rs2060793 — CYP2R1

Chromosome 11 Risk Allele G Category Vitamin D Metabolism Vitamin D, Bone Health, Immune Function, Micronutrients, Cardiovascular

Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase expression, lowering the conversion of vitamin D3 to 25(OH)D and predisposing carriers to vitamin D insufficiency