Research — GeneOps

rs61754002 — VWF Y357X

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Carrier Status, Genetic Counseling, Thrombosis, Heart Disease, Thrombophilia

Nonsense mutation creating a premature stop codon in von Willebrand factor; null allele associated with von Willebrand disease

rs6548238 — TMEM18

Chromosome 2 Risk Allele C Category Appetite & Obesity Obesity, Appetite, Fat Metabolism, Diabetes, Insulin Resistance

Second strongest obesity GWAS locus after FTO - influences hypothalamic appetite regulation

rs6693831 — IL23R

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Autoimmune, Inflammation, Arthritis, IBD, Inflammatory Bowel Disease, Immune & Autoimmune

Intronic IL23R variant where the minor T allele is associated with increased ankylosing spondylitis susceptibility and the common C allele confers protection across several IL-23/Th17-driven inflammatory diseases in Asian populations

rs73625113 — ESR1 ESR1 rs73625113

Chromosome 6 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Estrogen, Estrogen Metabolism, Women's Health, Pain Management, Reproductive Health

An intronic regulatory variant in ESR1 at the 6q25.1 locus identified as a high-confidence causal endometriosis SNP (posterior inclusion probability 0.506) through fine-mapping of the Rahmioglu et al. 2023 mega-GWAS; the T allele lies in strong LD with eQTLs driving ESR1 expression and DNA methylation near ESR1, implicating altered estrogen receptor signaling in endometriosis susceptibility and pain subphenotypes including dysmenorrhea and dyspareunia

rs763780 — IL17F His161Arg

Chromosome 6 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Immune Defense, Immune & Autoimmune, Bacterial Clearance, Infection Risk

Missense variant that reduces IL-17F bioactivity and acts as a natural IL-17F antagonist, protecting against Th17-driven autoimmune conditions while impairing antifungal mucosal defense

rs17293632 — SMAD3

Chromosome 15 Risk Allele T Category Allergy & Atopic Disease Autoimmune, T-Cell Regulation, Asthma, Crohn's Disease, Gut Health, Inflammation

Intronic regulatory variant in SMAD3 that alters TGF-beta effector signaling in regulatory T cells, conferring pleiotropic risk for both allergic disease (asthma, hay fever, eczema) and Crohn's disease through impaired immune tolerance

rs17857135 — RNF213 Met270Thr

Chromosome 17 Risk Allele C Category Neurology & Cognition Migraine, Neurological Risk, Brain Health, Cardiovascular, Angiogenesis, Cerebrovascular

Missense variant (Met270Thr) in RNF213, the major moyamoya disease susceptibility gene; the C allele reached genome-wide significance for migraine risk (OR=1.06), linking vascular remodeling genetics to common headache disorders

rs1801131 — MTHFR A1298C

Chromosome 1 Risk Allele G Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Thrombophilia

Second MTHFR variant affecting enzyme activity in the regulatory domain

rs1801278 — IRS1 Gly972Arg (G972R)

Chromosome 2 Risk Allele T Category Blood Sugar & Diabetes Insulin Resistance, Diabetes, Insulin, Metabolic, Pancreatic Beta Cell, Energy Metabolism

Missense variant in insulin receptor substrate 1 that impairs tyrosine phosphorylation and PI3-kinase recruitment, reducing insulin signaling and increasing type 2 diabetes risk and oral antidiabetes drug failure

rs2275780 — APH1A APH1A Promoter -21C/A

Chromosome 1 Risk Allele T Category Hormones & Sleep Alzheimer's, Brain Health, Notch Signaling, Neurodegeneration, Amyloidosis

5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstream of the translation start codon; studied alongside the -980C/G risk variant in sporadic Alzheimer's disease but not independently associated with disease risk