Research — GeneOps

rs11057841 — SCARB1

Chromosome 12 Risk Allele C Category Cholesterol & Lipoproteins Fat Metabolism, Eye Health, Retinal Health, Antioxidants, Beta-Carotene, Cardiovascular

Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-mediated uptake of macular carotenoids (lutein, zeaxanthin) and beta-carotene from HDL particles; T allele carriers show up to 24% higher serum lutein per allele

rs1143627 — IL1B -31T>C

Chromosome 2 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Inflammation, Autoimmunity, Gastric Health, Periodontal Disease, Cancer Risk, Immune Response

Promoter variant that elevates IL-1β transcription, increasing risk of H. pylori-driven gastric cancer, chronic periodontitis, and inflammatory tissue damage

rs115532916 — ACAD9 ACAD9 Ala326Pro

Chromosome 3 Risk Allele C Category Metabolic Enzymes & Rare Disorders Mitochondria, Energy Metabolism, B Vitamins, Cardiovascular, Carrier Status, Heart Disease

Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causing loss of ACAD enzyme activity and impaired mitochondrial complex I assembly; homozygous or compound heterozygous carriers develop ACAD9 deficiency with cardiomyopathy, lactic acidosis, and exercise intolerance; riboflavin-responsive in a subset of patients

rs11556924 — ZC3HC1 R363H

Chromosome 7 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Cardiovascular, Heart Disease, Atherosclerosis, Blood Pressure, Inflammation

Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363) allele is protective against coronary artery disease (OR 0.90, p=2.4×10⁻¹⁷)

rs11726117 — ALPK1 ALPK1 variant

Chromosome 4 Risk Allele C Category Uric Acid & Kidney Function Uric Acid, Gout, Inflammation, Innate Immunity, Kidney Function, Minerals

Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele is associated with elevated gout risk in East Asian populations through altered URAT1-mediated urate homeostasis and NF-κB inflammatory signaling

rs118204017 — ACADVL

Chromosome 17 Risk Allele C Category Liver Fat Fat Metabolism, Mitochondria, Carrier Status, Energy Metabolism, Genetic Counseling, Reproductive Health

ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD deficiency; heterozygous carriers are asymptomatic but important to identify for reproductive counseling

rs11950646 — SLC23A1

Chromosome 5 Risk Allele A Category Vitamins & Nutrient Absorption Vitamin C, Vitamins, Micronutrients, Antioxidants, Diet, Renal Function

Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) that independently predicts circulating plasma vitamin C levels, with the A allele associated with reduced ascorbate concentrations

rs12101261 — TSHR TSHR Intron 1 Adjacent Regulatory Variant

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

Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repressor-binding site in the open chromatin region controlling thymic TSHR expression; the T allele allows stronger PLZF binding, reduces intrathymic TSHR levels, impairs central immune tolerance to thyroid antigens, and confers susceptibility to Graves' disease

rs121434289 — SLC39A4 Gly374Arg

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

Missense variant in ZIP4 zinc transporter causing total loss of intestinal zinc absorption when homozygous; responsible for classical acrodermatitis enteropathica

rs12188300 — IL12B

Chromosome 5 Risk Allele T Category Psoriasis & Spondyloarthropathy Immune & Gut, Immune & Autoimmune, Inflammation, Inflammatory Bowel Disease, Pharmacogenomics, Psoriasis, Biologic Therapy, Skin

Near-gene variant at the IL12B locus associated with psoriasis risk through altered expression of the p40 subunit shared by IL-12 and IL-23 cytokines