Research — GeneOps

rs12722489 — IL2RA

Chromosome 10 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Immune & Gut, Immune & Autoimmune, Autoimmune, Type 1 Diabetes, Inflammation, Estrogen

Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhancer element — the risk C allele allows estrogen receptor alpha binding and increases IL2RA transcription, altering T-regulatory cell function and autoimmune disease susceptibility

rs12734494 — SLC30A1

Chromosome 1 Risk Allele A Category Vitamins & Nutrient Absorption Zinc, Minerals, Micronutrients, Immune Function, Vitamins, Ancestry-Specific

Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter in intestinal enterocytes; the A allele is markedly less common in East Asian populations (7.6%) than in European (49.4%) or African (42.7%) populations, suggesting population-specific selective pressure on zinc transport efficiency.

rs12740374 — SORT1 1p13.3 locus

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Cholesterol, Cardiovascular, Lipid Metabolism, LDL Cholesterol, Heart Disease, Diet

Regulatory variant that increases sortilin expression, lowering LDL cholesterol and cardiovascular risk

rs13193677 — TRAF3IP2

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Immune & Gut, Autoimmune, Inflammation, Lupus, Cardiovascular

Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by dbSNP, 43 Mb distal) that was genotyped alongside TRAF3IP2 coding variants in SLE studies; the A allele is independently associated with SLE susceptibility (OR=1.73, P=0.046) and SLE pericarditis in the Ciccacci 2013 Italian cohort — completing the three-SNP TRAF3IP2/locus panel

rs1426654 — SLC24A5 Ala111Thr

Chromosome 15 Risk Allele A Category Skin & Eyes Skin Pigmentation, Ancestry, Vitamin D, Sun Sensitivity, Melanoma Risk, UV Protection

Sodium/potassium/calcium exchanger that regulates melanin production in skin cells

rs150090666 — PDE3B PDE3B R783X

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Lipid Metabolism, Fat Distribution, Cardiovascular, HDL Cholesterol, Triglycerides, Metabolic

Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAMP-mediated lipolysis, higher HDL cholesterol, lower triglycerides, and reduced cardiovascular disease risk

rs17249754 — ATP2B1

Chromosome 12 Risk Allele G Category Blood Pressure & Hypertension Blood Pressure, Cardiovascular, Hypertension, Salt Sensitivity, Calcium

Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces PMCA1 expression in vascular tissue, impairing calcium efflux and raising blood pressure — one of the most replicated blood pressure GWAS loci across Asian and European populations

rs17266594 — BANK1 Branch-point splice

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

Intronic branch-point variant in BANK1 that shifts isoform balance toward full-length protein with intact TIR domain, amplifying TLR-driven B-cell activation and raising risk for SLE and systemic sclerosis

rs17881320 — STAT3 JAK-STAT3 Signaling Variant

Chromosome 17 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, Skin Health, Immune Response, Biologic Therapy

Intronic STAT3 variant associated with increased atopic dermatitis risk (OR=1.09) via altered cytokine signaling in the JAK-STAT pathway

rs1800595 — F5 HR2 haplotype (H1299R / R2)

Chromosome 1 Risk Allele C Category Coagulation & Clotting Factors Blood Clotting, Cardiovascular, Thrombophilia, Thrombosis, Blood Thinners

Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagulant cofactor function of factor V; clinically significant mainly when co-inherited with Factor V Leiden, where the combination amplifies thrombotic risk 3- to 4-fold beyond Leiden alone