Research — GeneOps

rs12640848 Intronic variant in the ENAM enamelin gene associated with altered dental caries susceptibility across multiple populations, with the reference A allele linked to increased caries risk and the alternate G allele to a protective effect

Chromosome 4 Risk Allele A Category Dental & Oral Health Tags Dental & Oral Health, Enamel Health, Minerals, Calcium, Inflammation

Of all the proteins that build your teeth, enamelin is the largest and arguably the most architecturally critical. Secreted by ameloblasts — the cells that construct enamel — enamelin functions at the mineralization front(https://pubmed.ncbi.nlm.nih.gov/14656895/), guiding hydroxyapatite crystals into their...

rs16941 Common missense variant in BRCA1 with debated association to modest breast cancer risk — NOT a pathogenic BRCA1 mutation

Chromosome 17 Risk Allele C Category Cancer Risk Tags Cancer Risk, BRCA, DNA Repair, Cancer Screening, Breast Cancer

The BRCA1 gene is one of the most well-known genes in human genetics, encoding a large protein essential for homologous recombination DNA repair(). Pathogenic mutations in BRCA1 dramatically increase lifetime risks of breast (60-70%) and ovarian (40-50%) cancer. However, not every variant in BRCA1 is pathogenic. The...

rs1016140 Intronic CD58 variant with a dual role — the G allele increases T-cell activity and NMO susceptibility by facilitating AQP4-antibody CNS entry, while the TT genotype reduces CD58 surface expression and suppresses regulatory T cells, conferring autoimmune thyroid disease risk

Chromosome 1 Risk Allele G Category Neurology & Cognition Tags Immune & Gut, Neuromyelitis Optica, T-Cell Regulation, Autoimmune, Neuroinflammation, Immune System

CD58, also known as LFA-3 (Lymphocyte Function-Associated Antigen 3)(https://pubmed.ncbi.nlm.nih.gov/19237575/), is a pivotal regulator of T-cell activation and immune tolerance. rs1016140 sits within the CD58 gene's intronic region (chromosome 1, position 116533925 on GRCh38) and has been independently associated...

rs1021737 Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfuration; TT homozygotes have significantly elevated plasma homocysteine and reduced hydrogen sulfide bioavailability, with a ~3-fold higher risk of fatal myocardial infarction in women

Chromosome 1 Risk Allele T Category Blood Pressure & Hypertension Tags Homocysteine, Cardiovascular, Heart Disease, Methylation, B Vitamins, Oxidative Stress

Your cardiovascular system relies on a steady supply of hydrogen sulfide (H₂S), a gaseous signaling molecule produced mainly by an enzyme called cystathionine gamma-lyase (CTH/CSE)(https://www.ncbi.nlm.nih.gov/gene/1491) in the liver and vascular wall. CTH sits at the junction of the transsulfuration pathway — the...

rs10278336 Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWAS-identified common risk allele for type 2 diabetes with a modest additive effect on fasting glucose dysregulation

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Pancreatic Beta Cell, Fasting Glucose, Cardiovascular

Glucokinase (GCK) is the primary glucose sensor in pancreatic beta cells — the enzyme that tells the cell how much insulin to release in response to rising blood sugar. Variants in the GCK gene itself cause maturity-onset diabetes of the young type 2 (MODY2)(https://omim.org/entry/138079) and influence fasting...

rs10380 Missense variant in methionine synthase reductase that impairs B12 reactivation, elevating homocysteine and reducing methylation capacity

Chromosome 5 Risk Allele T Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Folate, Cancer Risk, Epigenetics

Methionine synthase reductase (MTRR) is an enzyme whose sole job is to keep another enzyme — methionine synthase (MTR) — running. MTR converts homocysteine to methionine using methylcobalamin(https://pubmed.ncbi.nlm.nih.gov/18515090/) (active B12) as a cofactor, but during each catalytic cycle the B12 becomes...

rs10399931 Upstream regulatory variant in the CHI3L1 YKL-40 quantitative trait locus; the common C allele is independently associated with higher circulating YKL-40 levels, elevated asthma susceptibility, and increased CHI3L1 mRNA expression

Chromosome 1 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, Inflammation, Biomarkers, Immune & Autoimmune, Respiratory Infections, Lung Health

The CHI3L1 gene encodes YKL-40, one of the most clinically informative biomarkers of tissue inflammation — elevated in asthma, COPD, rheumatoid arthritis, and coronary artery disease. How much YKL-40 your body produces is largely genetically predetermined, and the CHI3L1 locus on chromosome 1q32.1 contains multiple...

rs10403955 Intronic CYP2B6 haplotype-tagging variant associated with altered plasma concentrations of efavirenz, S-methadone, and other CYP2B6-metabolized drugs

Chromosome 19 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Antidepressants, Pain Medication, Addiction, Anesthesia

The CYP2B6 enzyme accounts for only 1–4% of total hepatic cytochrome P450 content yet handles metabolism of several high-stakes medications: the HIV antiretroviral efavirenz, the addiction-treatment drug methadone, the antidepressant and smoking-cessation aid bupropion, the cancer drug cyclophosphamide, and the...

rs10482605 NR3C1 promoter variant reducing glucocorticoid receptor transcription; G allele (coding-strand C) associated with blunted GR expression and 4.7-fold increased risk of metabolic syndrome when homozygous

Chromosome 5 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, HPA Axis, Cortisol, Stress Response, Metabolic Syndrome, Cardiovascular

Cortisol, the body's primary stress hormone, communicates with cells through the glucocorticoid receptor (GR) encoded by NR3C1. When cortisol binds the GR, it triggers gene expression programs that regulate inflammation, blood glucose, immune function, and fat distribution — all processes central to both metabolic...

rs104894136 Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at position 239 (c.715C>T); homozygotes or compound heterozygotes develop complete 17α-hydroxylase/17,20-lyase deficiency with hypertension, hypokalemia, absent pubertal development, and adrenal crisis risk.

Chromosome 10 Risk Allele A Category Reproductive Hormones Tags Steroid Hormones, Steroid Metabolism, Hypertension, Reproductive Health, Carrier Status, Congenital

A single molecular accident — a C-to-T transition in exon 4 of CYP17A1 — replaces arginine at position 239 with a premature stop codon. The resulting truncated protein retains only the first 238 of 508 amino acid residues, lacking both the substrate-binding pocket and the heme coordination site that give...