Research — GeneOps

rs6746030 — SCN9A R1150W

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

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

rs72823628 — IL1RL1

Chromosome 2 Risk Allele G Category Allergy & Atopic Disease Autoimmune, Asthma, Immune Response, Inflammation, Innate Immunity, Immune Function

Intronic variant in the IL1RL1/IL18R1 receptor gene cluster on chromosome 2q12 that modulates allergic disease susceptibility; carriers of the A allele show reduced risk for allergic rhinitis and atopic conditions

rs6777055 — CACNA2D3

Chromosome 3 Risk Allele A Category Neurology & Cognition Pain Sensitivity, Neurotransmitters, Sensory Processing

Intronic variant affecting thermal pain sensitivity and central pain signal transmission

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

rs7927894 — EMSY

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

Regulatory variant near the EMSY/C11orf30 locus; T allele increases EMSY expression, suppressing filaggrin and ceramide production in skin, and is the broadest known allergic disease risk allele — associated with atopic dermatitis, asthma, hay fever, and the atopic march

rs6795209 — HTR1F

Chromosome 3 Risk Allele A Category Neurology & Cognition Migraine, Serotonin, Neurotransmitters, Pharmacogenomics, Pain Management, Brain Health

Intergenic variant at the HTR1F locus on chromosome 3; the minor A allele increases migraine susceptibility at genome-wide significance and sits within the genomic region encoding the 5-HT1F serotonin receptor — the direct drug target of lasmiditan (Reyvow), the first ditan-class migraine treatment

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

rs7927997 — EMSY EMSY/C11orf30 Atopy Regulatory Variant

Chromosome 11 Risk Allele T Category Allergy & Atopic Disease Asthma, Inflammation, Epigenetics, Immune Response, Skin Health, IBD

Regulatory variant near C11orf30 (EMSY) on chromosome 11q13.5; the T allele reduces EMSY transcriptional repressor activity, releasing TSLP and CCL5 expression in epithelial cells and increasing susceptibility to eosinophilic inflammation, atopic dermatitis, eosinophilic esophagitis, asthma, poly-sensitization, and Crohn's disease

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

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), reducing mitochondrial ribosomal protein L4 expression and increasing susceptibility to atopy and allergic rhinitis via the HIF-1α signalling pathway