Research — GeneOps

rs12640848 — ENAM

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

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

rs16941 — BRCA1 E1038G

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

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

rs1016140 — CD58

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

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

rs1021737 — CTH CTH Ser403Ile

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

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

rs10278336 — YKT6 GCK-Region Intronic Variant

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

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

rs10380 — MTRR His595Tyr

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

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

rs10399931 — CHI3L1 CHI3L1 eQTL Partner Variant

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

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

rs10403955 — CYP2B6

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

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

rs10482605 — NR3C1

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

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

rs104894136 — CYP17A1 Arg239*

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

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.