Research — GeneOps

rs28929474 — SERPINA1 Z allele (E342K)

Chromosome 14 Risk Allele T Category Metabolic Enzymes & Rare Disorders Detoxification, Lung Health, Liver Disease, Protease Inhibitor, Inflammation, Cardiovascular, Smoking Related

Most common alpha-1 antitrypsin deficiency variant causing protein misfolding, lung disease, and liver disease

rs3197999 — MST1 R689C

Chromosome 3 Risk Allele A Category IBD & Mucosal Immunity Immune & Gut, IBD, Innate Immunity, Macrophage, Crohn's Disease, Ulcerative Colitis, Autoimmune

Macrophage-stimulating protein variant affecting innate immune response and IBD susceptibility

rs324420 — FAAH Pro129Thr

Chromosome 1 Risk Allele A Category Mood & Behavior Mental Health, Neurotransmitters, Pain Management, Stress Response, Anxiety, Addiction, Endocannabinoid, Cannabis

Affects anandamide levels through altered FAAH enzyme stability, influencing pain sensitivity, stress response, fear extinction, and mood regulation

rs35257264 — ST3GAL4

Chromosome 11 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Blood Clotting, Thrombophilia, Cardiovascular, Thrombosis, Fibrinolysis

Intronic variant near ST3GAL4 that modulates VWF and Factor VIII sialylation, slowing their hepatic clearance and raising plasma levels — an established independent VTE risk factor

rs3761847 — TRAF1

Chromosome 9 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Rheumatoid Arthritis, Inflammation, Anti-TNF Biologics, Immune & Autoimmune, Joints

Intronic GWAS variant in the TRAF1-C5 locus on chromosome 9 robustly associated with seropositive rheumatoid arthritis risk; the G allele tags a haplotype that upregulates TRAF1 expression and amplifies NF-kB-driven joint inflammation

rs3789604 — RSBN1

Chromosome 1 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Psoriasis, T-Cell Regulation, Immune System, Thyroid, Immune & Autoimmune

Synonymous RSBN1 variant that tags a PTPN22 locus haplotype independently associated with early-onset psoriasis, psoriatic arthritis risk, and Graves' disease susceptibility. Curator note — gene field stays RSBN1 (LD-block proximity), but the functional signal is at the PTPN22 locus; do not double-count with rs2476601 (PTPN22 R620W) when both appear in the same panel as they tag overlapping autoimmune risk.

rs3796508 — TLR6 Val327Met

Chromosome 4 Risk Allele T Category Innate Immunity & Infection Defense Innate Immunity, Immune & Autoimmune, Inflammation, Bacterial Sensing, Immune System

Missense variant substituting valine with methionine at position 327 of TLR6, predicted damaging by SIFT and PolyPhen; the Met327 allele is rare globally but reaches 6% in East Asian populations and alters TLR2/TLR6 heterodimer function, affecting diacylated lipopeptide recognition from bacteria and mycoplasma with downstream consequences for innate immune regulation and autoimmune-inflammatory risk

rs3877899 — SELENOP Ala234Thr

Chromosome 5 Risk Allele T Category Vitamins & Nutrient Absorption Selenium, Antioxidants, Cancer Risk, Oxidative Stress, Micronutrients

Missense variant in selenoprotein P that alters selenium transport capacity; the T allele (Thr234) is associated with lower circulating SELENOP levels after selenium intake and elevated risk of adverse outcomes in prostate cancer and retinopathy of prematurity

rs3900940 — MYH15 T1105A

Chromosome 3 Risk Allele C Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Atherosclerosis, Muscle, Thrombosis, Thrombophilia

Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy chain 15, associated with modest coronary heart disease and noncardioembolic stroke risk

rs4406273 — HLA-C

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Immune & Gut, HLA, Autoimmune, Skin Health, Inflammation, Immune System

Near-HLA-C intergenic variant that tags HLA-C*06:02 haplotype, conferring risk for early-onset psoriasis vulgaris through MHC class I antigen presentation