Research — GeneOps

rs640561 — LRRIQ3

Chromosome 1 Risk Allele T Category Pharmacogenomics Pharmacogenomics, Substance Use, Pain Medication, Chronic Pain, Addiction

Intergenic variant near LRRIQ3 associated with problematic opioid prescription use in a large GWAS; the T allele tags elevated risk of using opioids not as prescribed

rs9402571 — SGK1

Chromosome 6 Risk Allele T Category Blood Sugar & Diabetes Insulin, Fasting Glucose, Diabetes, Insulin Resistance, Blood Pressure, Stress Response

Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the minor G allele is associated with improved insulin secretion in lean individuals and a modest reduction in type 2 diabetes prevalence, while also modifying blood pressure response to high dietary salt intake.

rs63751122 — APP L723P (Australian)

Chromosome 21 Risk Allele G Category Neurology & Cognition Alzheimer's, Neurological Risk, Neurodegeneration, Amyloidosis, Genetic Counseling, Dementia

Rare pathogenic missense variant in APP near the gamma-secretase cleavage site causing autosomal dominant early-onset familial Alzheimer's disease; the "Australian" mutation first identified in an early-onset kindred, increasing amyloid-beta42/43 production 1.4- to 1.9-fold

rs6413419 — CYP2E1 *4 (V179I)

Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Liver Health, Alcohol, Carcinogen Metabolism, Anesthesia

Missense variant (Val179Ile) defining the CYP2E1*4 allele; associated with altered CYP2E1 enzyme activity affecting metabolism of acetaminophen, ethanol, isoniazid, halogenated anesthetics, benzene, and tobacco nitrosamines

rs6589702 — PRG2 PRG2 Eosinophil Major Basic Protein Variant

Chromosome 11 Risk Allele A Category Allergy & Atopic Disease Asthma, Inflammation, Immune System, IBD, Immune & Autoimmune

Intergenic regulatory variant near the PRG2/PRG3 eosinophil granule protein cluster at chromosome 11; A allele may influence PRG2 expression and eosinophil major basic protein levels, implicated in eosinophil-mediated allergic inflammation and atopic disease susceptibility

rs941798 — PTPN1

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Insulin Resistance, Diabetes, Insulin, Fasting Glucose, Leptin, Metabolic Syndrome

Intronic PTPN1 variant tagging a haplotype block associated with reduced insulin sensitivity, higher fasting insulin, and elevated lipids through altered PTP1B expression

rs671 — ALDH2 *2

Chromosome 12 Risk Allele A Category Pharmacogenomics Drug Metabolism, Diet, Detoxification

Alcohol metabolism - flush reaction and cancer risk

rs6967330 — CDHR3 C529Y

Chromosome 7 Risk Allele A Category Allergy & Atopic Disease Innate Immunity, Infectious Disease, Immune & Antiviral, Asthma, Respiratory Infections, Lung Health

Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surface receptor expression and viral binding ~10-fold, elevating risk of rhinovirus-C respiratory infections and childhood asthma exacerbations

rs7125552 — EMSY EMSY Haplotype Partner Allergy Variant

Chromosome 11 Risk Allele G Category Allergy & Atopic Disease Asthma, Skin, Inflammation, Immune & Autoimmune, Epigenetics, Skin Health

Intronic EMSY variant that defines the high-risk haplotype at 11q13.5; the G allele is required for the rs7927894 T risk allele to exert its effect on atopic dermatitis and allergic rhinitis — without G at rs7125552, the rs7927894 T risk effect is abolished

rs6439886 — CLSTN2

Chromosome 3 Risk Allele A Category Neurology & Cognition Memory, Cognition, Brain Health, Neuroplasticity, Cognitive Decline

Intronic variant in the calsyntenin-2 gene associated with episodic memory performance and hippocampal inhibitory circuit function