Research — GeneOps

rs25487 — XRCC1 R399Q

Chromosome 19 Risk Allele T Category Cancer Risk Cancer Risk, DNA Repair, Base Excision Repair, Smoking Interaction, Cancer Screening

Base excision repair scaffold protein that coordinates repair of oxidative DNA damage and single-strand breaks; the Gln variant reduces repair efficiency at the PARP-binding domain

rs35929607 — STK39

Chromosome 2 Risk Allele G Category Blood Pressure & Hypertension Blood Pressure, Hypertension, Salt Sensitivity, Kidney Function, Cardiovascular, Renal Function

Intronic variant in the SPAK kinase gene that has been studied for association with blood pressure regulation through the WNK-SPAK-NCC sodium reabsorption axis

rs3733585 — SLC2A9

Chromosome 4 Risk Allele A Category Uric Acid & Kidney Function Gout, Uric Acid, Kidney Function, Diet, Cardiovascular

Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate transporter locus; the A allele (coding-strand T) is in linkage disequilibrium with known urate-raising haplotypes at SLC2A9 and is associated with modestly elevated serum uric acid through reduced renal urate clearance efficiency; the G allele (coding-strand C) tags the urate-lowering haplotype

rs397508072 — KCNQ1 Q356X

Chromosome 11 Risk Allele T Category Arrhythmia & Heart Rhythm Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status

Nonsense mutation in the cardiac IKs potassium channel causing premature protein truncation; heterozygous carriers develop Romano-Ward long QT syndrome type 1 with risk of life-threatening arrhythmia, while homozygous carriers develop Jervell and Lange-Nielsen syndrome with congenital deafness

rs4253623 — PPARA

Chromosome 22 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Inflammation, Fat Metabolism, Heart Disease, Lipid Metabolism

Intronic PPARA variant whose minor G allele has been associated with modest myocardial infarction risk and may influence the gene's anti-inflammatory transcriptional activity in vascular tissue

rs4752 — GC GC rs4752

Chromosome 4 Risk Allele G Category Vitamin D Metabolism Vitamin D, Micronutrients, Bone Health, Immune Function, Autoimmune, Mineral Metabolism

Synonymous variant in vitamin D binding protein that tags distinct GC haplotypes, contributing to VDBP isoform diversity and influencing immune function, uveitis risk, and vitamin D bioavailability

rs515726176 — CPT2

Chromosome 1 Risk Allele C Category Liver Fat Fat Metabolism, Mitochondria, Muscle, Energy Metabolism, Carrier Status

Rare CPT2 missense variant (p.Arg382Thr) that reduces carnitine palmitoyltransferase II activity, impairing long-chain fatty acid transport into mitochondria and increasing risk of exercise-induced rhabdomyolysis in homozygous carriers.

rs10925254 — MTR

Chromosome 1 Risk Allele T Category Methylation & Detox Methylation, B Vitamins, Homocysteine, Folate, Craniofacial, Embryo Development

Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

rs1143699 — PTPRS PTPRS C/T (rs1143699)

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Pancreatic Beta Cell, Metabolic Syndrome, Insulin Resistance, Energy Metabolism

Synonymous PTPRS variant associated with increased type 2 diabetes risk in men with the homozygous risk genotype, acting through impaired pancreatic beta-cell insulin secretion

rs11657479 — TBX21 TBX21 3' UTR Variant

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease T-Cell Regulation, Asthma, Autoimmune, Inflammation, Immune Response, Immune Function

A 3' UTR variant in TBX21 (c.*169T>C) that modulates T-bet expression; the C allele increases T-bet levels in immune cells and shifts the Th1/Th2 axis toward Th1, reducing classic atopic susceptibility while elevating risk for Th1-driven inflammatory conditions including ankylosing spondylitis