Research — GeneOps

rs4532 Regulatory 5'UTR variant in the dopamine D1 receptor gene influencing receptor density and cognitive efficiency under high cognitive load

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

When the prefrontal cortex faces demanding cognitive work — holding multiple items in working memory, filtering out distracting information, switching flexibly between tasks — it depends heavily on dopamine signaling through the D1 receptor(https://www.ncbi.nlm.nih.gov/gene/1812). The DRD1 gene encodes this...

rs4803217 3' untranslated region variant in IFNL3 (IL28B) that controls mRNA stability via AU-rich elements and miRNA binding — independently predicts hepatitis C spontaneous clearance and treatment response

Chromosome 19 Risk Allele A Category Pharmacogenomics Tags Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune

The interferon lambda-3 gene (IFNL3, formerly IL28B) on chromosome 19q13.13 encodes one of the body's most potent antiviral cytokines — a protein that activates interferon-stimulated genes(https://pubmed.ncbi.nlm.nih.gov/24241692/) in hepatocytes and mucosal epithelial cells. While the famous rs12979860 variant (in...

rs567754 Intronic variant in betaine-homocysteine methyltransferase gene associated with selenium levels but no known disease risk

Chromosome 5 Risk Allele T Category Methylation & Detox Tags Methylation, Homocysteine, B Vitamins, Cardiovascular, Diet

The BHMT gene encodes betaine-homocysteine methyltransferase, a zinc-dependent enzyme that provides an alternative pathway for converting homocysteine back to methionine. BHMT is involved in regulating homocysteine metabolism by converting betaine and homocysteine to dimethylglycine and methionine . This alternative...

rs6031552 Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modestly elevated risk for impaired insulin secretion and type 2 diabetes

Chromosome 20 Risk Allele A Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Energy Metabolism, Metabolic Health, Liver Health, HDL Cholesterol

HNF4A(https://www.ncbi.nlm.nih.gov/gene/3172) is one of the master regulators of metabolic gene expression. It controls dozens of genes involved in glucose production, fatty acid oxidation, and cholesterol transport. HNF4A is unique in having two distinct promoters — P1, active in adult liver, and P2, active in...

rs76428106 Low-frequency intronic variant in FLT3 that creates a cryptic splice site, truncating the receptor in 30% of transcripts and doubling plasma FLT3 ligand per allele, substantially increasing risk of autoimmune thyroid disease (Hashimoto's) and other autoimmune conditions

Chromosome 13 Risk Allele C Category Hormones & Sleep Tags Thyroid, Autoimmune, Autoimmunity, Immune System, Hormones & Thyroid, Hormones

The FLT3 gene encodes a receptor tyrosine kinase() that sits at the top of the immune cell development hierarchy. FLT3 and its ligand (FLT3L) together act as a master controller for the production and mobilization of dendritic cells() — the immune system's antigen-presenting specialists. When FLT3 is partially...

rs324011 Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, increasing STAT6 promoter activity; the T allele is associated with elevated total serum IgE and increased risk for atopic dermatitis, asthma, and allergic rhinitis through enhanced Th2 signaling

Chromosome 12 Risk Allele T Category Allergy & Atopic Disease Tags JAK-STAT Signaling, Inflammation, Autoimmune, Asthma, Skin Health, T-Cell Regulation

STAT6 (Signal Transducer and Activator of Transcription 6)(https://pubmed.ncbi.nlm.nih.gov/29083406/) is the central transcription factor of the Th2 immune axis — the pathway that governs allergic disease. The rs324011 variant, located in intron 2 of the STAT6 gene on chromosome 12, is one of the most studied...

rs45598239 Near-gene variant tagging the TMPRSS3 hearing loss locus on chromosome 21, associated with susceptibility to sensorineural hearing loss and carrier status for DFNB8/10 deafness

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

The TMPRSS3 gene on chromosome 21q22.3(https://pubmed.ncbi.nlm.nih.gov/34868270/) encodes a type II transmembrane serine protease indispensable for the survival and maturation of cochlear hair cells — the sensory cells that translate mechanical sound vibrations into electrical nerve signals. When TMPRSS3 function is...

rs4986893 No-function CYP2C19 stop-gain variant — second most common loss-of-function allele, highest in East Asian ancestry

Chromosome 10 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Blood Thinners, Proton Pump Inhibitors, Antidepressants

CYP2C193| rs4986893 — the second most common CYP2C19 loss-of-function allele after 2 is a single-base G-to-A change (c.636GA) that replaces the tryptophan codon at position 212 with a premature stop codon (p.Trp212Ter, historically written W212X). The truncated protein lacks the heme-binding domain and has...

rs606231425 Pathogenic missense variant in the cobalamin-processing enzyme; homozygosity causes cobalamin C (cblC) disease with severe methylation and detoxification failure

Chromosome 1 Risk Allele A Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Vitamin B12, Carrier Status

MMACHC | Methylmalonic aciduria and homocystinuria type C protein — the enzyme that unlocks vitamin B12 for cellular use is the gatekeeper of intracellular cobalamin metabolism. Dietary vitamin B12 arrives in cells in chemically inert forms (cyanocobalamin, hydroxocobalamin) that must be processed — decyanated and...

rs6067484 Intronic PTPN1 tag SNP within the 100-kb T2D-risk haplotype block — carriers of the G allele have modestly higher PTP1B activity, reducing insulin and leptin signal duration and raising LDL cholesterol risk in lean individuals

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, Leptin, Obesity, Cholesterol, Metabolic Health

Every time you eat a carbohydrate, your pancreas releases insulin, which binds to receptors on muscle and fat cells and triggers a cascade that moves glucose from blood into cells. That signal is powerful — but it has to be turned off. The enzyme responsible for turning it off is PTP1B, encoded by the PTPN1 gene on...