Research — GeneOps

rs11650680 — ORMDL3 ORMDL3 17q21 asthma susceptibility

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Asthma, Lung Health, Inflammation, Immune Response, Immune System, Respiratory Infections

Intronic regulatory variant in the ORMDL3 17q21 haploblock; the C allele drives elevated ORMDL3 expression in airway epithelial cells and immune cells, increasing asthma susceptibility and total IgE levels; the T allele is protective

rs11713169 — NLGN1

Chromosome 3 Risk Allele C Category Neurology & Cognition Cognition, Neuroplasticity, Sensory Processing, Brain Health, Neurotransmitters

Intronic variant in neuroligin 1, a postsynaptic cell adhesion molecule essential for excitatory synapse formation and NMDA-dependent plasticity; the C allele increases susceptibility to motion sickness and impairs habituation to repeated motion exposure at genome-wide significance (P=5.9×10⁻¹³)

rs1175543 — PPARG PPARG rs1175543

Chromosome 3 Risk Allele A Category Fat Storage & Energy Diabetes, Insulin, Metabolic Syndrome, Metabolic Health, Adipogenesis, Cardiovascular

Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G allele associates with a protective effect against metabolic syndrome and modestly lower total cholesterol in large prospective data.

rs121918390 — APOB APOB R2522X

Chromosome 2 Risk Allele A Category Cholesterol & Lipoproteins Cholesterol, Fat Metabolism, Cardiovascular, Diet, Liver Health

Nonsense mutation truncating apolipoprotein B at residue 2522, causing familial hypobetalipoproteinemia with characteristically low LDL-C, hepatic steatosis, and potential fat-soluble vitamin insufficiency in heterozygous carriers

rs12248560 — CYP2C19 *17

Chromosome 10 Risk Allele T Category Pharmacogenomics Drug Metabolism, Proton Pump Inhibitors, Antidepressants

Increased function CYP2C19 variant - rapid/ultrarapid metabolizer

rs1330 — NUCB2

Chromosome 11 Risk Allele T Category Hormones & Sleep Hormones, Sleep, Appetite, Obesity, Metabolic Health, Cancer Risk

Intronic NUCB2 variant associated with obesity risk in males, type 2 diabetes risk in females, and colorectal cancer susceptibility — the T allele modestly affects nesfatin-1 signaling across multiple metabolic and oncological contexts

rs1343151 — IL23R

Chromosome 1 Risk Allele A Category IBD & Mucosal Immunity Autoimmune, Inflammation, IBD, Arthritis, T-Cell Regulation, Immune Function

Intronic IL23R variant whose minor A allele tags the protective haplotype for ankylosing spondylitis and Crohn's disease while representing an independent susceptibility signal for rheumatoid arthritis

rs137853097 — HSD17B4 N457Y

Chromosome 5 Risk Allele T Category Metabolic Enzymes & Rare Disorders Carrier Status, Fat Metabolism, Neurological Risk, Reproductive Health, Genetic Counseling, Hearing Loss

Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein; biallelic inheritance causes peroxisomal fatty acid oxidation failure with severe neonatal neurological disease; heterozygous carriers are clinically unaffected but carry reproductive risk

rs140597 — FBN1 D1113G

Chromosome 15 Risk Allele C Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Connective Tissue, Genetic Counseling, Carrier Status, Extracellular Matrix

Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating aspartate at position 1113 with glycine in an EGF-like calcium-binding domain, disrupting microfibril assembly and predisposing heterozygous carriers to familial thoracic aortic aneurysm and dissection (FTAAD) and Marfan syndrome

rs140926439 — FN1

Chromosome 2 Risk Allele T Category Longevity & Aging Alzheimer's, Neurological Risk, Extracellular Matrix, Neurodegeneration, Longevity, Brain Health

Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk in APOE ε4 carriers by limiting pathological fibronectin accumulation at the blood-brain barrier