Research — GeneOps

rs1799977 — MLH1 Ile219Val

Chromosome 3 Risk Allele G Category Gamete Quality & DNA Repair DNA Repair, Mismatch Repair, Genomic Stability, Cancer Risk, Fertility, Sperm Quality

Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that substitutes isoleucine for valine at a conserved hydrophobic position; classified benign for Lynch syndrome with intact mismatch repair activity

rs28937317 — SCN5A N1325S

Chromosome 3 Risk Allele C Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Pharmacogenomics

Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 causing Long QT syndrome type 3 through persistent late sodium current and prolonged ventricular repolarization

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

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

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.

rs104894503 — TPM1 D175N (Asp175Asn)

Chromosome 15 Risk Allele A Category Cardiomyopathy & Structural Heart Heart Disease, Cardiovascular, Genetic Counseling, Carrier Status, Biomarkers

Pathogenic alpha-tropomyosin missense variant that increases thin filament calcium sensitivity, causing familial hypertrophic cardiomyopathy; a founder mutation accounting for ~6.5% of HCM cases in Finland

rs104895444 — NOD2

Chromosome 16 Risk Allele A Category IBD & Mucosal Immunity Crohn's Disease, IBD, Innate Immunity, Gut Health, Autoimmune, Inflammation

Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; contributes to Crohn's disease risk primarily in compound heterozygous state with other NOD2 variants