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 and gallstones

rs4987188 — MSH2 Gly322Asp

Chromosome 2 Risk Allele A Category Gamete Quality & DNA Repair Mismatch Repair, DNA Repair, Genomic Stability, Cancer Risk, Male Fertility, Colorectal Cancer

Missense variant in the MSH2 lever domain (c.965G>A, p.Gly322Asp) that substitutes glycine for aspartate at a conserved structural position; classified benign for Lynch syndrome, but carriers transmit significantly more germline microsatellite de novo mutations to offspring, reflecting subtly reduced mismatch repair fidelity in germ cells

rs10839553 — CCKBR

Chromosome 11 Risk Allele C Category Neurology & Cognition Dopamine, Neurotransmitters, Sleep, Iron, Parkinson's, Neurological Risk

Intronic variant near the cholecystokinin B receptor gene associated with restless legs syndrome risk through dopaminergic signaling in the basal ganglia

rs10925260 — MTR

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

Intronic MTR variant associated with neural tube defect risk

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

rs11657479 — TBX21 TBX21 3' UTR Variant

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease T-Cell Regulation, Asthma, Autoimmune, Inflammation, Immune Response, Immune Function

A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C allele increases T-bet levels in immune cells and shifts the Th1/Th2 axis toward Th1, reducing classic atopic susceptibility while elevating risk for Th1-driven inflammatory conditions including ankylosing spondylitis

rs116855232 — NUDT15 Arg139Cys

Chromosome 13 Risk Allele T Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Chemotherapy, Cancer Treatment, Immunosuppressants, Autoimmune, IBD, Crohn's Disease

Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduced function causes severe myelosuppression at standard drug doses

rs12044149 — IL23R

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Autoimmune, Arthritis, Psoriasis, Inflammation, Immune & Autoimmune, JAK-STAT Signaling

Regulatory variant upstream of the IL-23 receptor gene more strongly associated with psoriatic arthritis than cutaneous psoriasis alone, implicating distinct Th17 signaling at the joint versus skin interface

rs121908677 — SLC7A7 SLC7A7 p.Gly54Val

Chromosome 14 Risk Allele A Category Metabolic Enzymes & Rare Disorders Micronutrients, Carrier Status, Genetic Counseling, Bone Health, Lung Health, Metabolism

Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; homozygosity abolishes intestinal and renal transport of lysine, arginine, and ornithine, causing lysinuric protein intolerance

rs12736689 — RGS16

Chromosome 1 Risk Allele C Category Hormones & Sleep Chronotype, Circadian, Sleep, Hormones, Brain Health

Intronic/regulatory variant near RGS16 that is the strongest single-locus morningness GWAS hit (P=7.0×10⁻¹⁸); the C allele (~4% global frequency) is associated with earlier chronotype via RGS16-mediated cAMP gating in the suprachiasmatic nucleus