Research — GeneOps

rs11857380 — LIPC

Chromosome 15 Risk Allele T Category Triglycerides & Fatty Acids Cholesterol, Fat Metabolism, Cardiovascular, Triglycerides, Diet

Intronic LIPC variant tagging reduced hepatic lipase expression; G allele associated with elevated HDL cholesterol and lower risk of age-related macular degeneration

rs12101255 — TSHR

Chromosome 14 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Thyroid, Hormones & Thyroid, Immune & Autoimmune, Inflammation

Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic expression of the TSH receptor, allowing autoreactive T cells to escape tolerance and increasing susceptibility to Graves' disease — the most common autoimmune cause of hyperthyroidism

rs121434288 — SLC39A4 SLC39A4 zinc transporter variant

Chromosome 8 Risk Allele T Category Iron & Mineral Transport Zinc, Micronutrients, Carrier Status, Minerals, Metal Metabolism, Genetic Counseling

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

rs121909548 — SERPINC1 Cambridge II (A384S)

Chromosome 1 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Thrombophilia, Blood Clotting, Thrombosis, Cardiovascular, Genetic Counseling, Blood Thinners

Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed thrombin inhibition, causing type II reactive-site antithrombin deficiency and approximately 10-fold increased venous thromboembolism risk

rs121965063 — F11 Glu117Stop (Type II)

Chromosome 4 Risk Allele T Category Coagulation & Clotting Factors Blood Clotting, Cardiovascular, Thrombosis, Carrier Status, Genetic Counseling, Thrombophilia

Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing severe FXI deficiency (hemophilia C) in homozygotes and partial deficiency in heterozygotes; associated with surgical bleeding risk at mucosal sites and, paradoxically, reduced ischemic stroke and DVT risk

rs12232375 — ZFPM1 ZFPM1 Hematology/Cardiac Locus Variant

Chromosome 16 Risk Allele C Category Arrhythmia & Heart Rhythm Erythropoiesis, Cardiovascular, Heart Disease, Iron, Inflammation

Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the C allele associates with lower mean corpuscular hemoglobin, altered plateletcrit, elevated reticulocyte count, and minor PR interval prolongation

rs12487736 — SCAP SCAP Val798Ile

Chromosome 3 Risk Allele C Category Atherogenic Lipoproteins Cholesterol, Cardiovascular, Atherosclerosis, Heart Disease, Lipid Metabolism, Statins

Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allele (coding-strand G) impairs the SCAP–SREBP-2 feedback axis, promoting cholesterol accumulation in vascular cells and elevating sudden cardiac death risk in combination with the SREBF2 Gly595Ala variant

rs1537415 — GLT6D1

Chromosome 9 Risk Allele C Category Dental & Oral Health Dental & Oral Health, Inflammation, Immune System, Immune Response, Bone Health

Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T cells, increasing aggressive periodontitis risk

rs17879961 — CHEK2 I157T

Chromosome 22 Risk Allele G Category Cancer Risk Cancer Risk, DNA Repair, Double-Strand Break Repair, Cancer Screening, Breast Cancer, Colorectal Cancer

Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding and dimerization, conferring moderate-penetrance susceptibility to breast, colorectal, thyroid, prostate, and kidney cancer

rs10166942 — TRPM8

Chromosome 2 Risk Allele T Category Neurology & Cognition Brain Health, Pain Sensitivity, Thermogenesis, Metabolic, Migraine

Upstream regulatory variant of the cold-sensing TRPM8 channel that modulates migraine susceptibility, cold pain sensitivity, and brown adipose thermogenesis