Research — GeneOps

rs1051266 Folate transporter — how well folate gets into your cells

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

SLC19A1 (Solute Carrier Family 19 Member 1), also known as the reduced folate carrier (RFC1), is the primary transporter responsible for moving folate from your blood into your cells. Even if you produce adequate methylfolate (via MTHFR) or take methylfolate supplements, this transporter determines how efficiently...

rs1057518309 Rare pathogenic missense variant in desmoplakin that enhances calpain-mediated protein degradation, destabilizing the cardiac desmosome and causing biventricular arrhythmogenic cardiomyopathy with left ventricular predominance

Chromosome 6 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Arrhythmia, Fibrosis, Genetic Counseling, Carrier Status

Every heartbeat demands that cardiomyocytes — the muscle cells of the heart — transmit enormous mechanical forces across their shared boundaries. This is the job of the desmosome(https://pubmed.ncbi.nlm.nih.gov/32372669/), and its master scaffold is desmoplakin (DSP) — the only structural component that spans from...

rs1064395 3' UTR variant in the neurocan gene associated with bipolar disorder and schizophrenia risk, with measurable effects on hippocampal memory function and limbic brain structure

Chromosome 19 Risk Allele A Category Neurology & Cognition Tags Cognition, Memory, Brain Health, Mental Health, Neurological Risk, Neuroplasticity

Neurocan(https://www.ncbi.nlm.nih.gov/gene/1463) (NCAN) is a structural protein in the brain's extracellular matrix that shapes how neurons grow, migrate, and form connections during development and throughout life. rs1064395 is a 3' UTR variant() in the NCAN gene — a single-letter change in the messenger RNA that...

rs1080985 CYP2D6 promoter variant (-1584C>G) that reduces enzyme expression; the C allele is associated with lower CYP2D6 activity and impaired response to donepezil and other CYP2D6-metabolized drugs

Chromosome 22 Risk Allele C Category Pharmacogenomics Tags Pharmacogenomics, Drug Metabolism, Alzheimer's, Cognition, Antidepressants, Pain Medication

CYP2D6 is responsible for metabolizing roughly 25% of all prescribed medications, yet the amount of CYP2D6 enzyme your liver produces is not fixed — it varies with a cluster of regulatory variants that act like volume controls on the gene. One of the most consistently studied of these is...

rs11172113 Intronic enhancer variant in LRP1 that regulates receptor expression in brain and vasculature, linking migraine susceptibility to central leptin signaling and metabolic regulation

Chromosome 12 Risk Allele C Category Fat Storage & Energy Tags Leptin, Cardiovascular, Brain Health, Appetite, Fat Metabolism

LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) is a giant scavenger receptor expressed throughout the body but especially important in the brain and blood vessels. While it was originally studied for its role in clearing lipoproteins from the bloodstream, research over the past decade has revealed that...

rs11236797 Regulatory variant in a distal enhancer at 11q13.5 that controls GARP expression on regulatory T cells, impairing TGF-beta-mediated immune tolerance and increasing risk for asthma, allergic rhinitis, and inflammatory bowel disease

Chromosome 11 Risk Allele A Category Allergy & Atopic Disease Tags Autoimmune, T-Cell Regulation, Inflammation, Asthma, Immune Function, Microbiome

Regulatory T cells (Tregs) are the immune system's peacekeepers — specialized lymphocytes that suppress excessive inflammation and prevent the immune system from attacking harmless environmental antigens like pollen, pet dander, and food proteins. Their ability to do this depends critically on a surface protein...

rs11465770 Intronic IL23R variant whose minor T allele tags a protective haplotype that dampens IL-23/Th17 signalling, reducing susceptibility to Crohn's disease and ulcerative colitis

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Tags IBD, Crohn's Disease, Autoimmune, Inflammation, Immune & Gut, Biologic Therapy

The immune system uses the interleukin-23 (IL-23) signalling axis as a master switch for chronic inflammatory responses. When IL-23 binds the IL-23 receptor (IL23R) on Th17 cells(https://pubmed.ncbi.nlm.nih.gov/21364948/), it sustains production of the pro-inflammatory cytokine IL-17A and drives the kind of...

rs1154155 T-cell receptor alpha locus variant associated with narcolepsy susceptibility, particularly in HLA-DQB1*06:02 positive individuals

Chromosome 14 Risk Allele G Category Hormones & Sleep Tags Sleep, Autoimmune, Immune System, T-Cell Regulation, HLA, Inflammation

Narcolepsy type 1 — the form marked by sudden muscle weakness (cataplexy) and daytime sleep attacks — is not simply a sleep disorder. It is an autoimmune disease where the immune system destroys a small cluster of neurons in the hypothalamus that produce hypocretin(https://pubmed.ncbi.nlm.nih.gov/19412176/). Once...

rs11644943 An intronic FTO variant outside the well-known intron-1 obesity cluster; the T allele (GRCh38 reference, ~77% globally) is associated with increased obesity risk in Asian populations, while the protective A allele reduces obesity susceptibility. Not in linkage disequilibrium with the primary FTO obesity signals (rs9939609, rs1421085).

Chromosome 16 Risk Allele T Category Appetite & Obesity Tags Obesity, Fat Metabolism, Metabolic, Diet, Appetite, Metabolic Health

The FTO gene — officially the fat mass and obesity-associated gene — contains one of the most replicated loci in obesity genetics. Most research has focused on a cluster of intron-1 variants(https://pubmed.ncbi.nlm.nih.gov/17434869/) led by rs9939609 and the mechanistic variant rs1421085. But the FTO gene spans over...

rs11967262 Regulatory variant ~7 kb upstream of VEGFA linked to elevated varicose vein risk through altered vascular endothelial growth factor expression and venous wall remodeling

Chromosome 6 Risk Allele G Category Vascular Inflammation & Remodeling Tags Cardiovascular, Angiogenesis, Heart Disease, Inflammation, Thrombosis, Blood Clotting, Thrombophilia

Your veins are not passive conduits. They are living structures whose walls depend on a continuous interplay of growth signals, smooth muscle tone, and extracellular matrix remodeling. VEGFA — vascular endothelial growth factor A(https://www.ncbi.nlm.nih.gov/gene/7422) — sits at the center of this balance. The...