Research — GeneOps

rs2303067 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

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

Your skin is a living wall, held together by a precisely timed demolition system. As dead cells reach the outermost layer, proteases called kallikreins(https://pubmed.ncbi.nlm.nih.gov/22730493/) dissolve the protein links between them so they can shed naturally. The braking system for this process is a multi-domain...

rs35887622 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

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

The human cochlea relies on an extraordinary feat of ion management: within the spiral organ of Corti, potassium ions(https://pubmed.ncbi.nlm.nih.gov/11810458/) flow through hair cells during sound detection and must be continuously recycled through a network of gap junction channels before they can cause cellular...

rs3788205 Intronic marker in the folate transporter gene; tags SLC19A1 haplotype variation associated with folate-dependent disease risk

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

SLC19A1 (Solute Carrier Family 19 Member 1), also known as the reduced folate carrier (RFC1), is the primary transporter that moves folate and antifolate drugs from the bloodstream into cells. The well-characterized G80A variant rs1051266(https://pubmed.ncbi.nlm.nih.gov/20236513/) sits in the transmembrane domain...

rs3892097 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.

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

CYP2D6 is one of the most clinically significant drug-metabolizing enzymes in the human body. Despite making up only about 2% of liver CYP450 content, it metabolizes approximately 25% of all clinically used medications. The 4 allele| rs3892097 is the most common non-functional variant in European populations,...

rs5210 A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression via microRNA binding, influencing insulin secretion and sulfonylurea drug response

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

Most people know that DNA variants in protein-coding regions can alter how enzymes and channels work. But rs5210 tells a more subtle story. This variant sits in the 3' untranslated region (3' UTR) of KCNJ11 — the gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (KATP)...

rs55694368 Upstream regulatory signal near the core circadian clock gene PER2 that shifts chronotype toward eveningness and increases susceptibility to shift-work misalignment

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

About 121 kilobases upstream of the PER2 gene(https://www.ncbi.nlm.nih.gov/gene/8864) sits a regulatory region that acts as a long-range tuner of PER2 expression. The rs55694368 variant in this region was first identified in a 2016 genome-wide association study of nearly 90,000 people and independently confirmed in...

rs9491696 Intronic enhancer variant in RSPO3 that increases gene expression in adipocytes, promoting android (abdominal) fat distribution over gynoid (lower-body) fat

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

The shape of your body — whether fat accumulates at the waist or at the hips — is not purely a matter of diet and exercise. A robust body of genetic research has identified RSPO3 (R-spondin 3) as the single strongest genetic determinant of waist-to-hip ratio adjusted for...

rs953413 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

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

The conversion of dietary plant omega-3s into DHA — the brain's dominant structural fat — is governed by a chain of enzymes whose efficiency varies widely between individuals. ELOVL2 (elongase of very long chain fatty acids protein 2) catalyzes the critical elongation step that converts EPA (20:5) into DPA (22:5)...

rs2305480 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

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

The 17q21 chromosomal region is the most replicated genetic risk locus for childhood asthma in the genome, with associations reported across dozens of studies in European, African, East Asian, and South Asian populations. For years, the gene driving this signal was assumed to be...

rs3751143 Loss-of-function variant in the P2X7 receptor that reduces inflammatory response and may modulate pain sensitivity

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

The P2X7 receptor is an ATP-gated ion channel(https://pubmed.ncbi.nlm.nih.gov/24934217/) expressed primarily on immune cells, particularly microglia in the central nervous system. When activated by high concentrations of extracellular ATP—a danger signal released during tissue damage—P2X7 triggers a cascade of...