Research — GeneOps

rs419788 — SKIV2L

Chromosome 6 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Lupus, Autoimmune, MHC Antigen Presentation, Inflammation, HLA, Complement, SLE, MHC Class III

Intronic SKIV2L variant in the MHC class III region; the T allele tags an independent susceptibility signal for systemic lupus erythematosus separate from HLA-DRB1

rs4473653 — SLC2A9

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

Intronic SLC2A9 variant in a third independent haplotype block within the GLUT9 urate transporter locus; the A allele (reference, ~57% European frequency) is associated with elevated serum uric acid, while the protective G allele (~43% European) improves renal urate clearance — with stronger effects in women — and reduces dietary fructose-induced urate spikes

rs55714927 — ASGR1 ASGR1 K89K

Chromosome 17 Risk Allele T Category Atherogenic Lipoproteins Cardiovascular, LDL Cholesterol, Cholesterol, Atherosclerosis, Liver, Heart Disease

Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gene that acts as an sQTL and eQTL, reducing ASGR1 expression and associating with lower LDL and non-HDL cholesterol at genome-wide significance and reduced coronary artery disease risk

rs5985 — F13A1 Val34Leu

Chromosome 6 Risk Allele A Category Coagulation & Clotting Factors Blood Clotting, Thrombosis, Fibrinolysis, Cardiovascular, Thrombophilia, Venous Health

Missense variant in Factor XIII A subunit; the Leu34 allele accelerates thrombin-driven FXIII activation, producing finer and more fibrinolysis-susceptible fibrin clots — moderately protective against venous thromboembolism and myocardial infarction, with context-dependent effects at elevated fibrinogen

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

rs72755295 — EXO1 EXO1 mismatch repair variant

Chromosome 1 Risk Allele G Category Gamete Quality & DNA Repair Fertility, Ovarian Reserve, Menopause, DNA Repair, Mismatch Repair, Breast Cancer

Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhancer activity; the G allele is associated with earlier age at natural menopause (ovarian ageing) and elevated breast cancer risk through upregulated EXO1 expression

rs7940244 — NADSYN1 Near DHCR7

Chromosome 11 Risk Allele T Category Vitamin D Metabolism Vitamin D, Bone Health, Immune System, Cholesterol, Cardiovascular

Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags the lower-vitamin-D haplotype, reducing 7-dehydrocholesterol availability for skin vitamin D3 synthesis

rs944289 — FOXE1

Chromosome 14 Risk Allele T Category Cancer Risk Thyroid, Cancer Risk, Hormones & Thyroid

Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor expression, increasing risk of papillary thyroid cancer

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

rs12243326 — TCF7L2 TCF7L2 Incretin Response Depth Variant

Chromosome 10 Risk Allele C Category Blood Sugar & Diabetes Diabetes, Insulin, Insulin Resistance, Metabolic, Diet, Energy Metabolism

Intronic TCF7L2 depth variant replicated across multiple populations as a secondary type 2 diabetes risk signal, likely tagging a distinct regulatory element that modulates Wnt/TCF7L2-driven proglucagon expression and incretin signaling depth