Research — GeneOps

rs3775291 — TLR3 Leu412Phe

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

Missense variant in TLR3 that halves dsRNA-binding capacity, reducing antiviral interferon responses and increasing susceptibility to several viral infections

rs4349859 — HLA-B HLA-B27 proxy

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Immune System, Autoimmune, HLA, Arthritis, Inflammation, MHC Antigen Presentation

Intronic tag SNP located 41 kb centromeric of HLA-B and 5.4 kb telomeric of MICA; the A allele tags HLA-B*27:05 and related European HLA-B27 subtypes with 98% sensitivity and 99% specificity, serving as a genetic proxy for HLA-B27 status and enabling contextualization of ERAP1 × HLA-B27 epistasis in ankylosing spondylitis risk

rs4788102 — SH2B1 SH2B1/APOBR locus variant

Chromosome 16 Risk Allele A Category Appetite & Obesity Obesity, Appetite, Leptin, Insulin, Metabolic, Fat Metabolism

Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor protein in hypothalamic leptin and insulin signaling; A allele is associated with increased BMI and metabolic risk in large GWAS studies

rs4848306 — IL1B

Chromosome 2 Risk Allele G Category Endometriosis & Uterine Health Endometriosis, Inflammation, Women's Health, Reproductive Health, Immune Response

IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the A allele is associated with reduced IL-1β promoter activity, potentially lowering the chronic peritoneal inflammatory load implicated in endometriosis pathogenesis

rs641153 — CFB R32Q

Chromosome 6 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Eye Health, Complement System, Inflammation, Aging, Autoimmune

Protective missense variant in complement factor B that reduces alternative pathway C3 convertase formation, lowering AMD risk by roughly half and dampening complement-driven tissue damage

rs6849729 — SLC2A9

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Gout, Uric Acid, Kidney Function, Cardiovascular, Diet

Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-clearance haplotype; the T allele is associated with reduced urate excretion and elevated serum uric acid, while the C allele tags the protective haplotype that supports more efficient renal urate clearance

rs700519 — CYP19A1 Arg264Cys

Chromosome 15 Risk Allele A Category Reproductive Hormones Aromatase, Fertility, Reproductive Health, Estrogen, PCOS, Uterine Fibroids

Coding variant in aromatase that substitutes cysteine for arginine at position 264; in vitro evidence shows increased aromatase activity, with reported associations with PCOS risk and ART pregnancy outcomes in some populations

rs708272 — CETP TaqIB

Chromosome 16 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, Longevity, Diet, Alcohol

Influences HDL cholesterol levels and particle size through effects on cholesterol ester transfer protein activity

rs7574865 — STAT4 Intron 3

Chromosome 2 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Immune & Gut, Lupus, Interferon, Autoimmune, Rheumatoid Arthritis, Inflammation

Intronic STAT4 variant that amplifies the interferon-alpha and IL-12 response, conferring the strongest common genetic risk for lupus outside the HLA region

rs7759938 — LIN28B

Chromosome 6 Risk Allele T Category Fertility & Ovarian Function Puberty Timing, Fertility, Reproductive Health, Hormones, Uterine Fibroids

Regulatory variant near LIN28B associated with puberty timing — the T allele is linked to earlier menarche in females and earlier puberty in males, with implications for reproductive window length and age-at-onset of fertility