Research — GeneOps

rs2303067 — SPINK5 SPINK5 Lys420Glu

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Skin Health, Autoimmune, Inflammation, Protease Inhibitor, Asthma, Skin & Eyes

Missense variant in SPINK5 encoding LEKTI domain 6 (p.Lys420Glu) that increases furin-mediated cleavage of the LEKTI precursor, impairing the strongest-activity inhibitory fragment D6–D9, elevating kallikrein protease activity, and increasing susceptibility to early-onset atopic dermatitis

rs35887622 — GJB2 M34T

Chromosome 13 Risk Allele G Category Neurology & Cognition Hearing Loss, Sensorineural, Carrier Status, Sensory Processing, Reproductive Health

Connexin 26 missense variant causing partial loss of cochlear gap junction function; the main mild-severity GJB2 deafness allele in European populations, with reduced penetrance and typically mild-to-moderate hearing loss

rs3788205 — SLC19A1 SLC19A1 intronic variant

Chromosome 21 Risk Allele T Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine

Intronic marker in the folate transporter gene; tags SLC19A1 haplotype variation associated with folate-dependent disease risk

rs3892097 — CYP2D6 *4

Chromosome 22 Risk Allele T Category Pharmacogenomics Drug Metabolism, Antidepressants, Pain Medication

CYP2D6 *4 splice-defect null allele — the most common loss-of-function CYP2D6 variant in Europeans (~20% allele frequency) and the most-prescribed-against PGx variant worldwide. Determines codeine and tramadol failure (no morphine/O-desmethyltramadol conversion), reduced tamoxifen→endoxifen activation, and elevated exposure to many SSRIs and tricyclic antidepressants metabolized by CYP2D6.

rs5210 — KCNJ11 KCNJ11 Kir6.2 Co-Variant

Chromosome 11 Risk Allele G Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Metabolic, Fasting Glucose

A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression via microRNA binding, influencing insulin secretion and sulfonylurea drug response

rs55694368 — PER2 PER2 regulatory variant

Chromosome 2 Risk Allele T Category Hormones & Sleep Circadian, Chronotype, Sleep, Melatonin, Mental Health

Upstream regulatory signal near the core circadian clock gene PER2 that shifts chronotype toward eveningness and increases susceptibility to shift-work misalignment

rs9491696 — RSPO3

Chromosome 6 Risk Allele G Category Fat Storage & Energy Fat Metabolism, Obesity, Insulin Resistance, Cardiovascular, Women's Health, Adipogenesis

Intronic enhancer variant in RSPO3 that increases gene expression in adipocytes, promoting android (abdominal) fat distribution over gynoid (lower-body) fat

rs953413 — ELOVL2

Chromosome 6 Risk Allele A Category Triglycerides & Fatty Acids Omega-3, Lipid Metabolism, Nutrition & Metabolism, Cardiovascular, Aging, Liver Health

Intronic enhancer variant in ELOVL2 that controls transcription factor binding to the ELOVL2 promoter, with the A allele reducing elongase-2 expression and impairing EPA-to-DHA conversion; the lead InCHIANTI GWAS signal for plasma EPA levels and a modifier of sex-specific DHA response to omega-3 supplementation

rs2305480 — GSDMB GSDMB Pro311Ser protective haplotype

Chromosome 17 Risk Allele G Category Allergy & Atopic Disease Asthma, Lung Health, Innate Immunity, Inflammation, Autoimmune, Respiratory Infections

Missense variant in gasdermin B that increases GSDMB expression and pyroptotic activity in airway epithelial cells, with the G (reference) allele conferring elevated childhood asthma risk through enhanced epithelial cell inflammatory death

rs3751143 — P2RX7 Glu496Ala

Chromosome 12 Risk Allele C Category Neurology & Cognition Pain Sensitivity, Inflammation, Immune Function, Neuroinflammation, Cardiovascular, Infectious Disease

Loss-of-function variant in the P2X7 receptor that reduces inflammatory response and may modulate pain sensitivity