Research — GeneOps

rs2234663 — IL1RN

Chromosome 2 Risk Allele D Category TNF, NF-kB & Inflammatory Cytokines Inflammation, Autoimmune, Immune Function, Gastric Health, Periodontal Disease, Rheumatoid Arthritis

Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is associated with increased susceptibility to gastric cancer after H. pylori infection, severe chronic periodontitis, SLE, COPD, and post-traumatic osteomyelitis through dysregulated IL-1/IL-1Ra signaling

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

rs2293275 — LHCGR Asn312Ser (N312S)

Chromosome 2 Risk Allele T Category Fertility & Ovarian Function Reproductive Health, Hormones, Fertility, PCOS, Pharmacogenomics

Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ovarian response to LH stimulation, PCOS risk, ovarian aging, and IVF outcomes

rs2304256 — TYK2 TYK2 V362F

Chromosome 19 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Interferon, Inflammation, Type 1 Diabetes, Rheumatoid Arthritis, JAK-STAT Signaling, Lupus

A common missense and splicing variant in TYK2 that promotes exon 8 inclusion and mildly enhances TYK2 expression, conferring protection against multiple autoimmune diseases including SLE, rheumatoid arthritis, type 1 diabetes, and psoriasis

rs2413450 — TMPRSS6 TMPRSS6 iron regulation variant

Chromosome 22 Risk Allele T Category Iron & Mineral Transport Iron, Micronutrients, Vitamins, Cardiovascular, Diet

Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin levels — adds locus-depth coverage of the TMPRSS6 iron-regulation axis beyond the primary Ala736Val missense variant

rs26653 — ERAP1

Chromosome 5 Risk Allele G Category Psoriasis & Spondyloarthropathy Immune System, Autoimmune, MHC Antigen Presentation, Inflammation, Psoriasis, Arthritis

Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming kinetics, increasing autoimmune risk for psoriasis and ankylosing spondylitis particularly in individuals carrying HLA-C*06:02 or HLA-B27; association is strongest for disease onset in adolescence

rs267607353 — VWF S1783A

Chromosome 12 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Cardiovascular, Blood Clotting, Genetic Counseling, Carrier Status, Thrombophilia

Rare pathogenic missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M/2CB von Willebrand disease) with normal multimers but impaired platelet adhesion to subendothelial collagen

rs2747648 — ESR1 ESR1 3′UTR miR-453 site

Chromosome 6 Risk Allele T Category Reproductive Hormones Estrogen, Fertility, Reproductive Health, Breast Cancer, Women's Health, Menopause

3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity; the C allele strengthens microRNA-mediated ESR1 repression while the T allele weakens it, raising ESR1 protein levels and increasing premenopausal breast cancer risk

rs28362491 — NFKB1 -94ins/delATTG

Chromosome 4 Risk Allele D Category Innate Immunity & Infection Defense Innate Immunity, Inflammation, Cardiovascular, Autoimmune, Immune Response, TLR Signaling

Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and increasing cardiovascular and inflammatory disease susceptibility

rs3077 — HLA-DPA1 HLA-DPA1 3′ UTR variant

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune HLA, Infectious Disease, Liver Disease, Vaccination, Immune & Antiviral, Immune Response

Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression of HLA-DP antigen-presenting molecules; G allele reduces HLA-DPA1 mRNA expression and increases susceptibility to chronic hepatitis B infection while impairing HBV vaccine antibody response