Research — GeneOps

rs1234314 — TNFSF4

Chromosome 1 Risk Allele G Category Interferon Signaling & Systemic Autoimmune Autoimmune, T-Cell Regulation, Connective Tissue, Inflammation, Rheumatoid Arthritis, Lupus

Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is independently associated with susceptibility to systemic sclerosis and systemic lupus erythematosus

rs1250248 — FN1

Chromosome 2 Risk Allele A Category Endometriosis & Uterine Health Endometriosis, Fertility, Reproductive Health, Extracellular Matrix, Inflammation, Women's Health

Intronic variant in the fibronectin 1 gene associated with increased susceptibility to endometriosis, particularly moderate-to-severe disease; the A allele may influence transcription factor binding and FN1 expression, altering extracellular matrix remodeling in ectopic endometrial implants

rs1270942 — CFB

Chromosome 6 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Complement System, Lupus, Autoimmune, Inflammation, Immune & Gut, Immune & Autoimmune, Immune System

Intronic variant in Complement Factor B associated with strongly elevated systemic lupus erythematosus risk through alternative complement pathway dysregulation

rs12720270 — TYK2 TYK2 Intron 7 Splicing Variant

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

An intronic variant in TYK2 intron 7 that promotes exon 8 inclusion in the mature TYK2 transcript, enhancing TYK2 receptor-binding capacity and conferring protection against SLE in Caucasian populations; acts through the same exon 8 splicing mechanism as the co-associated rs2304256 (V362F) variant

rs12883343 — NFKBIA NFKBIA/IkB-alpha variant

Chromosome 14 Risk Allele G Category Psoriasis & Spondyloarthropathy Autoimmune, Psoriasis, Arthritis, Inflammation, Bone & Joint, Biologic Therapy

Regulatory variant near NFKBIA that specifically elevates risk for psoriatic arthritis over skin-only psoriasis, enabling early PsA risk stratification in people with psoriasis before irreversible joint damage occurs

rs12913832 — HERC2

Chromosome 15 Risk Allele G Category Skin & Eyes Skin, Hair & Pigmentation, Eye Color, Melanoma, UV Sensitivity, Cancer Risk

Intronic enhancer variant controlling OCA2 expression and determining blue versus brown eye color, the strongest genetic predictor of iris pigmentation

rs13207033 — TNFAIP3

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

Intergenic protective variant near TNFAIP3 that tags a haplotype associated with enhanced A20-mediated NF-kB suppression, reducing rheumatoid arthritis and ankylosing spondylitis risk at the 6q23 locus

rs13236689 — CD36

Chromosome 7 Risk Allele G Category Triglycerides & Fatty Acids Fat Metabolism, Cardiovascular, Lipid Metabolism, Atherosclerosis, Triglycerides, Metabolic Syndrome

Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface expression and influencing platelet activation, oxidized-LDL uptake, and postprandial lipid handling.

rs1378577 — ABCG1 ABCG1 ischemic stroke variant

Chromosome 21 Risk Allele T Category Atherogenic Lipoproteins Atherosclerosis, Cardiovascular, Cholesterol, HDL Cholesterol, Inflammation, Lipid Metabolism

Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expression in macrophages; the G allele is associated with reduced risk of ischemic stroke, particularly the atherothrombotic subtype, likely through effects on HDL-mediated cholesterol clearance from arterial plaques

rs1776897 — HMGA1

Chromosome 6 Risk Allele G Category Liver Fat Fat Metabolism, Obesity, Insulin, Cardiovascular

Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio and height through transcriptional regulation in adipose tissue