Research — GeneOps

rs228921 — TMPRSS6 TMPRSS6 iron regulation variant

Chromosome 22 Risk Allele G Category Iron & Mineral Transport Iron, Erythropoiesis, Micronutrients, Cardiovascular, Women's Health

Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin and iron status via the hepcidin axis, operating in a separate haplotype block from the well-characterized Ala736Val variant

rs2546890 — LOC285626 LOC285626 rs2546890

Chromosome 5 Risk Allele A Category Psoriasis & Spondyloarthropathy Autoimmune, Multiple Sclerosis, Psoriasis, Inflammation, Immune Response, Biologic Therapy

Regulatory variant upstream of IL12B associated with increased risk of multiple sclerosis, psoriasis, and primary biliary cholangitis through altered IL-12/IL-23 cytokine expression

rs2569190 — CD14 -159C>T

Chromosome 5 Risk Allele G Category Innate Immunity & Infection Defense Immune & Gut, Innate Immunity, Inflammation, Microbiome, Infectious Disease, Asthma

Promoter variant affecting CD14 expression and LPS receptor signaling — determines innate immune sensitivity to bacterial endotoxin and drives a classic gene-environment interaction with microbial exposure

rs258750 — NR3C1 NR3C1 Intronic Variant (c.2181+244A>G)

Chromosome 5 Risk Allele G Category Reproductive Hormones Fertility, Reproductive Health, Cortisol, HPA Axis, Stress Response, Hormones

Intronic NR3C1 variant tagging glucocorticoid receptor gene haplotype blocks associated with cortisol sensitivity, HPA axis reactivity, and downstream effects on reproductive hormone regulation

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

rs3024505 — IL10 3' downstream variant

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

Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing anti-inflammatory IL-10 production and raising susceptibility to inflammatory bowel disease, lupus, and Sjögren's syndrome

rs3126085 — FLG

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

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

rs353478 — UIMC1 UIMC1 DNA Damage Response Variant

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

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

rs36053993 — MUTYH G396D

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

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)

rs3733197 — BANK1 A383T

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

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