Research — GeneOps

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

rs4532 — DRD1

Chromosome 5 Risk Allele T Category Neurology & Cognition Dopamine, Cognition, Brain Health, Neurotransmitters, Memory

Regulatory 5'UTR variant in the dopamine D1 receptor gene influencing receptor density and cognitive efficiency under high cognitive load

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

rs7130588 — LRRC32

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

Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele increases LRRC32 expression and is associated with elevated risk of atopic asthma, atopic dermatitis, and the eczema-to-asthma progression (atopic march)

rs45598239 — TMPRSS3

Chromosome 21 Risk Allele T Category Neurology & Cognition Hearing Loss, Sensorineural, Carrier Status

Missense variant tagging the TMPRSS3 hearing loss locus on chromosome 21, associated with susceptibility to sensorineural hearing loss

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

rs71625130 — SNX27 1q21.3 T-cell signaling / Th17 locus variant

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

Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermatitis risk; the locus also encompasses nearby RORC, the master Th17 transcription factor

rs4851266 — AFF3

Chromosome 2 Risk Allele T Category Neurology & Cognition Cognition, Brain Health, Neuroplasticity, Omega-3, Memory

Intronic variant in the super elongation complex gene AFF3; the T allele increases AFF3 expression and was one of three original genome-wide significant hits for educational attainment (Rietveld 2013)

rs671 — ALDH2 *2

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

Alcohol metabolism - flush reaction and cancer risk

rs7192 — HLA-DRA HLA-DRA Leu242Val

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

Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HLA class II haplotypes associated with peanut allergy (OR ~1.7, p=5.5×10⁻⁸)