Research — GeneOps

rs34579341 — NEGR1 NEGR1 Neuronal Growth Regulator

Chromosome 1 Risk Allele G Category Mood & Behavior Depression, Anxiety, Neuroplasticity, Mood, Appetite, Cognition

Intronic tag SNP in NEGR1 affecting neuronal cell adhesion, hippocampal neurogenesis, and monoaminergic neurotransmission — the G allele is associated with increased risk of major depression, anxiety disorders, and elevated BMI through shared hypothalamic circuits

rs3790565 — IL12RB2

Chromosome 1 Risk Allele C Category IBD & Mucosal Immunity Autoimmune, Immune Function, T-Cell Regulation, Inflammation, Type 1 Diabetes, Autoimmunity

Intronic IL12RB2 variant associated with IL-12 signaling pathway variation and susceptibility to Th1-mediated autoimmune conditions including primary biliary cholangitis, allergic rhinitis, and endometriosis

rs3804099 — TLR2

Chromosome 4 Risk Allele C Category Innate Immunity & Infection Defense Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Immune System

Synonymous variant in Toll-Like Receptor 2 affecting mRNA stability and splicing, associated with pulmonary tuberculosis susceptibility, cancer risk modification, and anti-TNF treatment response in inflammatory bowel disease

rs3816769 — STAT3 STAT3 co-variant

Chromosome 17 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Autoimmune, Inflammation, JAK-STAT Signaling, IBD, Thyroid

Intronic STAT3 variant where the T allele (reference, ~66%) increases risk for autoimmune thyroid disease, Crohn's disease, and lung cancer while the protective C allele correlates with higher STAT3 expression

rs3825942 — LOXL1 G153D (Gly153Asp)

Chromosome 15 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Eye Health, Glaucoma, Connective Tissue, Extracellular Matrix, Cardiovascular, Inflammation, Aortic Wall, Elastin

Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allele is one of the strongest known genetic risk factors for exfoliation syndrome and exfoliation glaucoma, a leading cause of secondary glaucoma worldwide

rs396514912 — OBSCN Protein-truncating variant

Chromosome 1 Risk Allele D Category Cardiomyopathy & Structural Heart Muscle, Cardiovascular, Heart Disease, Exercise Recovery, Carrier Status, Genetic Counseling

Protein-truncating frameshift deletion in obscurin; homozygous or compound heterozygous carriers lose functional obscurin in muscle, predisposing to recurrent, exercise-triggered rhabdomyolysis.

rs397507172 — BTD

Chromosome 3 Risk Allele G Category Vitamins & Nutrient Absorption B Vitamins, Micronutrients, Carrier Status, Genetic Counseling, Metabolism, Congenital

Rare missense variant near the BTD active site (p.Val89Gly) that likely reduces biotinidase enzyme activity; heterozygous carriers have partial enzyme reduction while biallelic inheritance causes biotinidase deficiency

rs41295061 — IL2RA

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

Regulatory variant in the IL2RA locus altering LEF1 transcription factor binding and soluble IL-2 receptor levels — the C allele increases type 1 diabetes susceptibility while the minor A allele raises Graves' disease risk

rs490683 — GHSR GHSR Promoter NF-1 Site Variant

Chromosome 3 Risk Allele G Category Appetite & Obesity Appetite, Obesity, Satiety, Metabolic Health, Hormones, Fat Metabolism

Promoter variant in the ghrelin receptor gene that disrupts NF-1 transcription factor binding; the G allele preserves the binding site and elevates GHSR expression, increasing appetite drive and resistance to dietary weight loss intervention

rs519664 — TTC39B TTC39B rs519664

Chromosome 9 Risk Allele T Category Endometriosis & Uterine Health Endometriosis, Fertility, Women's Health, Inflammation, Lipid Metabolism, HDL Cholesterol

Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility; the T allele carries an OR of 1.29 for endometriosis, with a stronger effect on stage III/IV disease (OR 1.35). TTC39B is a regulator of LXR protein stability that controls HDL cholesterol metabolism, suggesting the endometriosis association may act through lipid-mediated inflammatory signalling in the peritoneal environment.