Research — GeneOps

rs6897932 — IL7R T244I

Chromosome 5 Risk Allele C Category Neurology & Cognition Immune & Autoimmune, Multiple Sclerosis, T-Cell Regulation, Inflammation, Immune & Gut, Autoimmune, Immune System, Neurological Risk

Splicing variant in the IL-7 receptor alpha chain that shifts the balance toward soluble receptor, amplifying IL-7 signaling and raising susceptibility to multiple sclerosis and related autoimmune conditions

rs872129 — CHI3L1 CHI3L1 eQTL Variant

Chromosome 1 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Biomarkers, Immune & Autoimmune, Lung Health, Cardiovascular

Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1; the G allele modifies circulating YKL-40 levels independently of the two primary CHI3L1 regulatory variants and has been linked to altered inflammatory and cerebrovascular risk

rs7101429 — GAB2 GAB2 Alzheimer's risk modifier

Chromosome 11 Risk Allele A Category Neurology & Cognition Alzheimer's, Tau Pathology, Neurodegeneration, Cognitive Decline, Neuroprotection, Brain Health

Intronic variant in GAB2 that modulates late-onset Alzheimer's disease risk; the minor G allele is protective, associated with higher GAB2 expression and reduced tau and amyloid pathology in brain tissue

rs8832 — IL4R IL4R 3'UTR Asthma Exacerbation Variant

Chromosome 16 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Immune Response, Immune System, Skin Health

3' untranslated region variant in the IL-4 receptor alpha chain gene; the G allele is associated with elevated type-2 inflammatory endotype in asthma and predicts exacerbation risk and pharmacogenetic response to IL-4 pathway blockade

rs72474224 — GJB2 V37I

Chromosome 13 Risk Allele T Category Neurology & Cognition Hearing Loss, Sensorineural, Congenital, Carrier Status, Sensory Processing

Connexin 26 missense variant causing partial loss of cochlear gap junction function; the leading cause of mild-to-moderate hereditary hearing loss in East Asian populations

rs762551 — CYP1A2 *1F

Chromosome 15 Risk Allele C Category Pharmacogenomics Drug Metabolism, Diet, Cardiovascular

CYP1A2 *1F intronic inducibility variant — defines fast vs slow caffeine metabolizer status and affects clearance of clozapine, theophylline, and tizanidine. The slow-metabolizer C allele blunts the smoking-induced enzyme upregulation that normally accelerates these drugs in heavy smokers.

rs907091 — IKZF3 IKZF3 miRNA Binding Region Variant

Chromosome 17 Risk Allele T Category Allergy & Atopic Disease Autoimmune, B-Cell Signaling, Immune System, Lupus, Rheumatoid Arthritis, Inflammation

A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolos transcription factor expression in a T-allele-dependent manner and increasing susceptibility to systemic autoimmune disease through impaired B-cell maturation and immune homeostasis

rs776746 — CYP3A5 *3

Chromosome 7 Risk Allele C Category Pharmacogenomics Drug Metabolism, Immunosuppressants, Pharmacogenomics, Transplant

Splice site variant creating a non-functional CYP3A5 enzyme, dramatically affecting metabolism of tacrolimus and other immunosuppressants

rs911263 — RAD51B RAD51B RA Proxy Variant

Chromosome 14 Risk Allele T Category Allergy & Atopic Disease Rheumatoid Arthritis, Arthritis, Autoimmune, DNA Repair, Immune & Autoimmune, Inflammation

Intronic proxy variant in RAD51B associated with seropositive rheumatoid arthritis risk; the C allele is protective while the T allele tags a haplotype at the RAD51B locus that predisposes to anti-CCP-positive RA and more severe joint erosion

rs744373 — BIN1

Chromosome 2 Risk Allele G Category Neurology & Cognition Alzheimer's, Neurological Risk, Memory, Cognitive Decline, Tau Pathology, Brain Health

Second strongest genetic risk factor for Alzheimer's disease after APOE, associated with increased tau pathology and accelerated cognitive decline