Research — GeneOps

rs28942074 — ATP7B R778L

Chromosome 13 Risk Allele A Category Vitamins & Nutrient Absorption Metal Metabolism, Liver Disease, Carrier Status, Genetic Counseling, Minerals, Liver

Pathogenic missense variant in the hepatic copper transporter ATP7B that abolishes protein trafficking to the trans-Golgi network; the most common Wilson disease mutation in East Asian populations, accounting for ~29% of pathogenic ATP7B alleles in Chinese patients; homozygotes and compound heterozygotes develop progressive copper accumulation causing liver disease, neurological symptoms, and Kayser-Fleischer rings; heterozygous carriers are asymptomatic but can transmit the disease if their reproductive partner also carries an ATP7B pathogenic variant

rs29941 — KCTD15

Chromosome 19 Risk Allele G Category Appetite & Obesity Obesity, Fat Metabolism, Adipogenesis, Appetite, Metabolic

GWAS obesity locus near KCTD15

rs3077 — HLA-DPA1 HLA-DPA1 3′ UTR variant

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune HLA, Infectious Disease, Liver Disease, Vaccination, Immune & Antiviral, Immune Response

Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression of HLA-DP antigen-presenting molecules; G allele reduces HLA-DPA1 mRNA expression and increases susceptibility to chronic hepatitis B infection while impairing HBV vaccine antibody response

rs33978901 — VWF p.Arg924Gln

Chromosome 12 Risk Allele T Category Von Willebrand & Anticoagulant Proteins Blood Clotting, Cardiovascular, Carrier Status, Heart Disease, Thrombosis, Thrombophilia

VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VIII levels, particularly in blood group O carriers, increasing bleeding risk when combined with other VWF variants or low-VWF states

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

rs3733197 — BANK1 A383T

Chromosome 4 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Autoimmune, Lupus, Immune System, Immune & Gut, B-Cell Signaling, Rheumatoid Arthritis

BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signaling through altered protein-protein interactions; the G allele (Ala383) confers risk for lupus, rheumatoid arthritis, and systemic sclerosis, with RA risk requiring epistatic co-presence of BLK rs13277113

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

rs5174 — LRP8 LRP8 R952Q

Chromosome 1 Risk Allele T Category Atherogenic Lipoproteins Heart Disease, Cardiovascular, Atherosclerosis, LDL Cholesterol, Triglycerides, Thrombosis, Thrombophilia

Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at position 952; the Q allele linked to early-onset familial myocardial infarction and altered platelet reactivity

rs5756504 — TMPRSS6 TMPRSS6 variant

Chromosome 22 Risk Allele C Category Iron & Mineral Transport Iron, Micronutrients, Cardiovascular, Vitamins

Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte parameters through the hepcidin-regulatory pathway

rs6063 — FGG Gly191Arg

Chromosome 4 Risk Allele T Category Coagulation & Clotting Factors Thrombosis, Blood Clotting, Cardiovascular, Heart Disease, Thrombophilia, Inflammation

Rare missense variant in the fibrinogen gamma chain producing a substantially elevated risk of venous thromboembolism