Research — GeneOps

rs199971687 — MMAB

Chromosome 12 Risk Allele T Category Vitamins & Nutrient Absorption Vitamin B12, B Vitamins, Carrier Status, Methylation & Detox, Metabolic

Pathogenic splice acceptor variant in MMAB that abolishes adenosylcobalamin synthesis, causing methylmalonic aciduria cblB type when two loss-of-function alleles are inherited

rs2230926 — TNFAIP3 F127C

Chromosome 6 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Gut Barrier, Lupus, Rheumatoid Arthritis, Immune & Gut

Missense variant in the A20 ubiquitin-editing enzyme that weakens NF-kB negative feedback, increasing susceptibility to autoimmune and inflammatory diseases

rs2256774 — IL2RA

Chromosome 10 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Immune & Autoimmune, Inflammation, Psoriasis, Skin, Multiple Sclerosis

Intronic IL2RA variant that modulates soluble IL-2RA shedding and Treg signaling; independently associated with psoriasis susceptibility and contributes to the IL2RA locus autoimmune risk signal

rs2268363 — FSHR FSHR ART Response Variant

Chromosome 2 Risk Allele G Category Fertility & Ovarian Function Fertility, Reproductive Health, Gonadotropins, IVF, Male Fertility, Hormones

Intronic variant in the FSH receptor gene; identified in a genome-wide association study as associated with post-radiotherapy erectile dysfunction risk in African-American men; located in close proximity to rs2268361 and serves as an FSHR haplotype tag with potential relevance to gonadotropin signaling

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