Research — GeneOps

rs228918 — TMPRSS6 TMPRSS6 upstream regulatory variant

Chromosome 22 Risk Allele C Category Iron & Mineral Transport Iron, Vitamins, Erythropoiesis, Minerals

Regulatory variant upstream of the iron-homeostasis gene TMPRSS6, associated with variation in serum iron, transferrin saturation, hemoglobin, and soluble transferrin receptor across populations

rs230523 — NFKB1

Chromosome 4 Risk Allele C Category Innate Immunity & Infection Defense Innate Immunity, Immune System, Infectious Disease, Inflammation, Infection Risk

Intronic variant in the master immune transcription factor NF-κB1, associated with modestly increased susceptibility to common infections

rs2364480 — LTBR

Chromosome 12 Risk Allele C Category Psoriasis & Spondyloarthropathy Autoimmune, Inflammation, Autoimmunity, Immune Function, Lymphatic, Innate Immunity

Synonymous coding variant in the lymphotoxin-beta receptor gene associated with altered LTBR signaling capacity and susceptibility to IgA nephropathy; the LTBR locus on chromosome 12p13 is independently implicated in ankylosing spondylitis at genome-wide significance

rs2414096 — CYP19A1 CYP19A1 intron 4 polymorphism

Chromosome 15 Risk Allele G Category Reproductive Hormones Aromatase, PCOS, Fertility, Reproductive Health, Estrogen, Steroid Hormones

Intronic CYP19A1 polymorphism associated with variation in aromatase expression and androgen-to-estrogen conversion; the G allele is linked to lower aromatase activity and elevated androgen levels in reproductive tissues, with population-specific associations to PCOS risk

rs244715 — ZNF346

Chromosome 5 Risk Allele G Category Gamete Quality & DNA Repair Ovarian Reserve, Menopause, Fertility, Reproductive Health, DNA Repair

Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP80 DNA-repair locus; the G allele may be associated with earlier age at natural menopause and modestly increased susceptibility to primary ovarian insufficiency

rs267607326 — VWF Y1146C

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

Pathogenic missense variant in the VWF D3 domain causing von Willebrand disease type 2A/IIE — the most common D3-cluster mutation — leading to loss of high-molecular-weight multimers, impaired hemostasis, and variable mucocutaneous bleeding

rs2731672 — F12

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

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

rs28777 — SLC45A2

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

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

rs3024491 — IL10 Intronic variant

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

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

rs34557412 — TNFRSF13B TACI C104R

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

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