Research — GeneOps

rs113994167 — ACADVL p.Val283Ala (V283A)

Chromosome 17 Risk Allele C Category Metabolic Enzymes & Rare Disorders Fat Metabolism, Mitochondria, Metabolic, Exercise, Muscle, Genetic Counseling

Most common VLCAD deficiency variant in the US, causing mild late-onset disease with exercise-induced rhabdomyolysis and fasting intolerance due to partial loss of mitochondrial fatty acid oxidation

rs11568821 — LOC105373977 PDCD1/LOC105373977 PD1.3

Chromosome 2 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Autoimmune, Lupus, Multiple Sclerosis, T-Cell Regulation, Immune & Autoimmune, Inflammation

Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus that disrupts a RUNX1 transcription factor binding site, altering PD-1 expression and conferring susceptibility to systemic lupus erythematosus and multiple sclerosis

rs11591147 — PCSK9 R46L

Chromosome 1 Risk Allele G Category Atherogenic Lipoproteins Cardiovascular, Cholesterol, Diet, Statins

Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and reduces coronary disease risk by up to 47%

rs1165196 — SLC17A1 SLC17A1 T269I (NPT1)

Chromosome 6 Risk Allele A Category Uric Acid & Kidney Function Gout, Uric Acid, Kidney Function, Renal Function, Micronutrients, Kidney

Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G allele (Thr269) is a gain-of-function variant that enhances renal NPT1-mediated urate secretion and lowers gout risk, while the common A allele (Ile269) carries baseline NPT1 activity and higher gout susceptibility

rs116843064 — ANGPTL4 ANGPTL4 E40K

Chromosome 19 Risk Allele G Category Triglycerides & Fatty Acids Triglycerides, Cardiovascular, Fat Metabolism, Cholesterol, Diet

Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, lowering fasting triglycerides and decreasing coronary artery disease risk in carriers of the K40 allele

rs121434287 — SLC39A4 SLC39A4 zinc transporter variant

Chromosome 8 Risk Allele A Category Iron & Mineral Transport Zinc, Minerals, Micronutrients, Digestive Health, Skin Health, Carrier Status

Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing acrodermatitis enteropathica — a rare autosomal recessive disorder of severe zinc deficiency — when inherited in biallelic form

rs121909547 — SERPINC1 Arg79Cys

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

Pathogenic missense variant in the antithrombin III heparin-binding domain; heterozygous carriers have antithrombin deficiency conferring an approximately 14-fold increased risk of venous thromboembolism

rs12640848 — ENAM

Chromosome 4 Risk Allele A Category Dental & Oral Health Dental & Oral Health, Enamel Health, Minerals, Calcium, Inflammation

Intronic variant in the ENAM enamelin gene associated with altered dental caries susceptibility across multiple populations, with the reference A allele linked to increased caries risk and the alternate G allele to a protective effect

rs16941 — BRCA1 E1038G

Chromosome 17 Risk Allele C Category Cancer Risk Cancer Risk, BRCA, DNA Repair, Cancer Screening, Breast Cancer

Common missense variant in BRCA1 with debated association to modest breast cancer risk — NOT a pathogenic BRCA1 mutation

rs1016140 — CD58

Chromosome 1 Risk Allele G Category Neurology & Cognition Immune & Gut, Neuromyelitis Optica, T-Cell Regulation, Autoimmune, Neuroinflammation, Immune System

Intronic CD58 variant with a dual role — the G allele increases T-cell activity and NMO susceptibility by facilitating AQP4-antibody CNS entry, while the TT genotype reduces CD58 surface expression and suppresses regulatory T cells, conferring autoimmune thyroid disease risk