Research — GeneOps

rs4841132 — PPP1R3B

Chromosome 8 Risk Allele A Category Liver Fat Fat Metabolism, Liver Health, Triglycerides, Diet, Insulin, Metabolic Syndrome

Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 study; minor A allele promotes hepatic glycogen accumulation, elevating liver enzymes and raising the risk of hepatic glycogenosis, non-alcoholic fatty liver disease, and gallstones

rs10925239 — MTR

Chromosome 1 Risk Allele T Category Methylation & Detox Methylation, B Vitamins, Homocysteine, Folate

Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

rs1111875 — HHEX HHEX/IDE locus T2D risk variant

Chromosome 10 Risk Allele C Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Fasting Glucose, Metabolic

Primary tag SNP at the HHEX/IDE locus on chromosome 10q23, one of the earliest and most replicated T2D GWAS hits, linked to reduced HHEX expression, impaired beta-cell development, and blunted first-phase insulin secretion

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