Research — GeneOps

rs72547515 — CYP1A2 *16 (Arg377Gln)

Chromosome 15 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Caffeine, Cardiovascular, Carcinogen Metabolism

Nearly-inactive CYP1A2 missense variant — carriers have severely impaired metabolism of caffeine, theophylline, tizanidine, and other CYP1A2 substrates

rs8111930 — MRPL4 MRPL4 Atopy-Associated Intronic Variant

Chromosome 19 Risk Allele G Category Allergy & Atopic Disease Asthma, Inflammation, Immune Function, Mitochondria, Immune System, Lung Health

Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription factor binding (AREB6 loss, CREB2 gain), increasing susceptibility to atopy and allergic rhinitis via the HIF-1α signalling pathway

rs63749884 — PSEN2 M239I

Chromosome 1 Risk Allele A Category Neurology & Cognition Alzheimer's, Neurological Risk, Neurodegeneration, Dementia, Genetic Counseling, Brain Health

Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominant familial Alzheimer's disease with variable onset (44–68 years) and documented incomplete penetrance; shifts gamma-secretase cleavage toward longer, aggregation-prone Aβ42 peptides

rs72547516 — CYP1A2 Ile386Val

Chromosome 15 Risk Allele G Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Caffeine, Phase I, Carcinogen Metabolism

Rare CYP1A2 missense variant (Ile386Val) associated with potentially reduced enzyme activity and altered metabolism of caffeine, clozapine, theophylline, and other CYP1A2 substrates

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

rs63749885 — PSEN1 H163Y

Chromosome 14 Risk Allele T Category Neurology & Cognition Alzheimer's, Neurodegeneration, Dementia, Cognitive Decline, Amyloidosis, Genetic Counseling

Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase processivity, elevating the Aβ42/Aβ40 ratio and causing autosomal dominant early-onset familial Alzheimer's disease with average onset around age 51.

rs72547517 — CYP1A2 *8

Chromosome 15 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Caffeine, Ancestry-Specific, Carcinogen Metabolism

CYP1A2*8 — near-complete loss-of-function missense variant causing severely reduced CYP1A2 enzyme activity; predominantly found in East Asian (Japanese) populations

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

rs63749891 — PSEN1 R278I / R278T

Chromosome 14 Risk Allele T Category Neurology & Cognition Alzheimer's, Dementia, Neurodegeneration, Neurological Risk, Genetic Counseling, Amyloidosis

Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase substrate processing, shifts amyloid-beta production toward longer amyloidogenic species (Aβ42, Aβ43), and causes autosomal dominant early-onset familial Alzheimer's disease typically presenting between ages 40 and 55.

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.