Research — GeneOps

rs12095080 — DIO1 DIO1 cardiac mortality variant

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Thyroid, Heart Disease, Hormones & Thyroid, Inflammation

3' UTR variant in the type 1 deiodinase gene associated with markedly increased cardiac mortality after myocardial infarction, acting through reduced local T4-to-T3 conversion in cardiac tissue

rs121434291 — SLC39A4 SLC39A4 zinc transporter variant

Chromosome 8 Risk Allele T Category Iron & Mineral Transport Zinc, Micronutrients, Carrier Status, Minerals, Metal Metabolism, Genetic Counseling

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

rs121917747 — SPR

Chromosome 2 Risk Allele T Category Vitamins & Nutrient Absorption Neurotransmitters, Dopamine, Serotonin, Carrier Status, Neurological Risk, Micronutrients

Nonsense variant in sepiapterin reductase creating a premature stop codon (p.Lys251Ter) that abolishes BH4 synthesis, causing dopa-responsive dystonia with severe neurotransmitter depletion when inherited biallelically

rs121918473 — PROS1 Asn258Ser

Chromosome 3 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Thrombophilia, Cardiovascular, Thrombosis, Blood Thinners, Genetic Counseling

Pathogenic PROS1 missense variant in the fourth EGF domain of protein S; heterozygous carriers have reduced free protein S activity and a markedly elevated risk of venous thromboembolism consistent with autosomal dominant type I protein S deficiency

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