Research — GeneOps

rs6536991 — UCP1

Chromosome 4 Risk Allele T Category Liver Fat Thermogenesis, Brown Fat, Fat Metabolism, Obesity, Energy Metabolism

Intronic UCP1 variant — the C allele is associated with reduced overweight risk and lower BMI, likely by influencing UCP1 expression in brown adipose tissue

rs6742078 — UGT1A10

Chromosome 2 Risk Allele T Category Uric Acid & Kidney Function Bilirubin, Liver Health, Gallstones, Drug Metabolism, Metabolism, Cardiovascular

Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associated with serum bilirubin levels; the T allele reduces glucuronidation capacity, causing mild hyperbilirubinemia and a dose-dependent increase in pigment gallstone risk

rs11627387 — MTHFD1

Chromosome 14 Risk Allele A Category Methylation & Detox Methylation, Folate, B Vitamins, Congenital, Cardiovascular, Embryo Development

Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, associated with increased risk of congenital heart defects and neural tube defects — particularly under low dietary folate conditions

rs11708067 — ADCY5 ADCY5 Glucose Signaling Variant

Chromosome 3 Risk Allele A Category Blood Sugar & Diabetes Diabetes, Insulin, Energy Metabolism, Metabolic Health, Metabolic Syndrome, Cardiovascular

Intronic regulatory variant that reduces ADCY5 expression in pancreatic islets, impairing glucose-stimulated cAMP production and insulin secretion, and raising fasting glucose and type 2 diabetes risk

rs117896735 — INPP5F

Chromosome 10 Risk Allele A Category Neurology & Cognition Parkinson's, Neurodegeneration, Sleep, Autophagy, Neurological Risk

Intronic variant in the INPP5F/BAG3 locus associated with increased risk of REM sleep behavior disorder — an early marker of Lewy body neurodegeneration

rs12251307 — IL2RA IL-2 receptor alpha chain variant

Chromosome 10 Risk Allele T Category Allergy & Atopic Disease Autoimmune, T-Cell Regulation, Inflammation, Type 1 Diabetes, Skin Health, Immune Function

Intergenic variant 19 kb downstream of IL2RA associated with atopic dermatitis (OR 1.10), asthma, and type 1 diabetes risk

rs12980275 — IFNL3

Chromosome 19 Risk Allele G Category Pharmacogenomics Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune, Drug Metabolism

Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C spontaneous clearance and treatment response; preferred tag for HCV pharmacogenomics in Asian populations where it was the original GWAS discovery signal

rs1495965 — IL23R

Chromosome 1 Risk Allele C Category IBD & Mucosal Immunity Autoimmune, Inflammation, Arthritis, IBD, Immune & Autoimmune, T-Cell Regulation

Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated with increased risk of ankylosing spondylitis, Behçet's disease, and Crohn's disease through IL-23 pathway dysregulation

rs174547 — FADS1

Chromosome 11 Risk Allele C Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Diet, Cardiovascular

Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA from plant sources

rs17514846 — FURIN

Chromosome 15 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Inflammation, Blood Pressure, Heart Disease, Atherosclerosis

Intronic regulatory variant modulating FURIN expression via allele-specific DNA methylation, associated with coronary artery disease risk and blood pressure through macrophage and endothelial cell mechanisms