Research — GeneOps

rs6656401 Intronic variant in the complement receptor 1 gene; the minor A allele impairs complement-mediated clearance of amyloid-beta and increases late-onset Alzheimer's disease risk with an odds ratio of ~1.21

Chromosome 1 Risk Allele A Category Neurology & Cognition Tags Alzheimer's, Complement System, Neurological Risk, Neuroinflammation, Cognitive Decline, Brain Health

Complement receptor 1 (CR1, also known as CD35) is a molecular garbage collector. It sits on the surface of red blood cells, monocytes, and dendritic cells, binding to complement-tagged debris — including amyloid-beta oligomers(https://pubmed.ncbi.nlm.nih.gov/19734903/) — and shuttling them to the liver and spleen...

rs67807361 Rare CYP2C9 N-terminal missense variant of uncertain functional significance in a CYP2C9 substrate metabolizer gene

Chromosome 10 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Warfarin, Pharmacogenomics, Pain Medication

CYP2C9 is one of the most clinically important liver enzymes, responsible for metabolizing roughly 15% of all prescription drugs. It sits in the wall of the endoplasmic reticulum() and carries out oxidative biotransformation of warfarin, phenytoin, many NSAIDs, and several oral hypoglycemics. Variants that impair...

rs71625130 Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermatitis risk by disrupting T cell trafficking and immune synapse signalling; the locus also encompasses nearby RORC, the master Th17 transcription factor

Chromosome 1 Risk Allele A Category Allergy & Atopic Disease Tags Autoimmune, Inflammation, T-Cell Regulation, Skin Health, Asthma, Immune Response

Atopic dermatitis (eczema) is the most common chronic inflammatory skin disease, driven by an immune system that responds inappropriately to harmless environmental triggers. One of its key drivers is T-helper cell dysregulation(https://pubmed.ncbi.nlm.nih.gov/22433369/), particularly an imbalance that tips immune...

rs66800491 Intergenic variant ~1.1 Mb upstream of NECTIN3/PVRL3; the strongest genome-wide signal for motion sickness susceptibility (P=4.2×10⁻⁴⁴ in 80,494 individuals), attributed to the PVRL3 locus whose encoded cell adhesion protein is required for normal ocular development and visual sensory input to the brain

Chromosome 3 Risk Allele A Category Neurology & Cognition Tags Sensory Processing, Vision, Neurological Risk, Brain Health, Eye Health

Motion sickness strikes roughly one in three people and is among the most common neurological complaints during travel. The core mechanism is the sensory conflict model(https://pubmed.ncbi.nlm.nih.gov/30406755/). In a car or on a ship, the inner ear signals movement while the eyes — focused on a book or a screen —...

rs6923761 GLP-1 receptor variant that alters response to GLP-1 agonist medications used for weight loss and type 2 diabetes

Chromosome 6 Risk Allele A Category Pharmacogenomics Tags Drug Response, Diabetes, Obesity, Pharmacogenomics

The GLP-1 receptor (GLP1R) is the target of some of the most widely prescribed medications for weight loss and type 2 diabetes, including semaglutide (Ozempic, Wegovy), liraglutide (Saxenda, Victoza), and tirzepatide (Mounjaro). The rs6923761 variant causes a glycine-to-serine substitution at position 168 of the...

rs7192 Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HLA class II haplotypes associated with peanut allergy (OR ~1.6, p=5.5×10⁻⁸) and is a functionally confirmed risk allele for drug hypersensitivity via altered antigen presentation

Chromosome 6 Risk Allele T Category Allergy & Atopic Disease Tags HLA, Food Sensitivity, Immune Response, Autoimmune, MHC Antigen Presentation, Inflammation

At the heart of every allergic reaction lies a decision made long before the first exposure: which proteins should the immune system tolerate, and which should trigger a response? That decision is governed by the HLA class II system(https://pmc.ncbi.nlm.nih.gov/articles/PMC5665015/). rs7192 introduces a missense...

rs67338227 Intronic variant in FHL5 (four and a half LIM domains 5), a transcriptional coactivator regulating cAMP-responsive gene programs in vascular smooth muscle cells; the T allele increases migraine susceptibility with an odds ratio of 1.09 per allele, identified across multiple large GWAS totaling over 160,000 cases

Chromosome 6 Risk Allele T Category Neurology & Cognition Tags Migraine, Cardiovascular, Neurological Risk, Endothelial Health, Blood Pressure

Migraine is not simply a brain pain disorder — it involves a coordinated failure in how blood vessels regulate their tone, particularly in the meninges and cranial arteries. FHL5 (four and a half LIM domains 5) encodes a transcriptional coactivator that regulates cAMP-responsive element modulator...

rs71328650 Intronic CYP2D6 haplotype tag variant (rs28371702 canonical form) associated with altered drug metabolism ratios for CYP2D6 substrates including aripiprazole and praziquantel

Chromosome 22 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Antidepressants, Pain Medication

CYP2D6 is responsible for metabolizing approximately 20–25% of all clinically prescribed medications, including opioids, antidepressants, antipsychotics, and beta-blockers. Most clinically significant CYP2D6 variants are defined by named star alleles — 4 (the most common null allele), 10 (reduced function), 6...

rs7216389 Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates ORMDL3 expression in airway cells, increasing sphingolipid-pathway ER stress and childhood asthma susceptibility

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

The chromosome 17q21 locus is the most replicated genetic risk factor for childhood-onset asthma ever identified. A dense block of linked variants spans six genes — IKZF3, ZPBP2, GSDMB, ORMDL3, LRRC3C, and GSDMA — and rs7216389, an intronic variant within GSDMB, serves as the most widely studied index SNP for this...

rs6746030 Common variant in the Nav1.7 sodium channel affecting pain sensitivity and pain threshold

Chromosome 2 Risk Allele A Category Neurology & Cognition Tags Pain Sensitivity, Neurotransmitters, Anesthesia

The SCN9A gene encodes Nav1.7(https://pubmed.ncbi.nlm.nih.gov/18060017/). This channel acts as a molecular amplifier in nociceptors—specialized sensory neurons that detect potentially harmful stimuli. The rs6746030 variant causes an amino acid substitution from arginine to tryptophan at position 1150 (R1150W),...