Research — GeneOps

rs705117 — GC

Chromosome 4 Risk Allele T Category Vitamin D Metabolism Vitamin D, Bone Health, Micronutrients, Immune System, Ancestry-Specific, Mineral Metabolism

Intronic GC variant independently associated with vitamin D binding protein (VDBP) concentration; TT carriers have lower circulating VDBP and lower total 25(OH)D but may have normal or elevated free (bioavailable) vitamin D

rs11545076 — GGH -124T>G

Chromosome 8 Risk Allele C Category Methylation & Detox Methylation, Folate, B Vitamins, Homocysteine, Detoxification

Promoter variant that increases GGH expression, accelerating hydrolysis of intracellular folate polyglutamates and reducing cellular folate retention

rs11705701 — IGF2BP2 IGF2BP2 Insulin Signaling Variant

Chromosome 3 Risk Allele A Category Blood Sugar & Diabetes Insulin, Insulin Resistance, Diabetes, Obesity, Energy Metabolism, Fat Distribution

Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in adipose tissue and pancreatic islets, impairing insulin secretion and increasing insulin resistance risk, with moderate evidence for type 2 diabetes susceptibility

rs12044852 — CD58

Chromosome 1 Risk Allele C Category Neurology & Cognition Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Neuroinflammation, Drug Metabolism

Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele drives MS susceptibility (OR 2.22 for CC) and predicts poor IFN-beta therapy response — the pharmacogenomic dimension absent from its LD partner

rs12141494 — CHI3L1 CHI3L1 Intron 6 Variant

Chromosome 1 Risk Allele A Category Allergy & Atopic Disease Asthma, Lung Health, Inflammation, Biomarkers, Immune Response

Intronic variant in CHI3L1 (intron 6) independently associated with asthma severity and airway YKL-40 expression; the A allele drives higher circulating YKL-40 levels and worse airflow obstruction through a mechanism that is independent of the well-known promoter variant rs4950928

rs12304921 — SLC11A2

Chromosome 12 Risk Allele G Category Fat Storage & Energy Iron, Diabetes, Energy Metabolism, Metabolic Health, Minerals, Insulin

Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, associated with altered iron absorption regulation and T2DM susceptibility through the iron-beta-cell axis

rs12713559 — APOB APOB R3558C

Chromosome 2 Risk Allele A Category Cholesterol & Lipoproteins Cholesterol, Cardiovascular, Fat Metabolism, Statins

Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%, classified as a variant of uncertain significance for familial-defective apolipoprotein B

rs12980275 — IFNL3

Chromosome 19 Risk Allele G Category Pharmacogenomics Innate Immunity, Inflammation, Infectious Disease, Interferon, Immune & Autoimmune, Drug Metabolism

Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C spontaneous clearance and treatment response; preferred tag for HCV pharmacogenomics in Asian populations where it was the original GWAS discovery signal

rs150812083 — PER3 PER3 Pro415Ala (FASPS3)

Chromosome 1 Risk Allele G Category Hormones & Sleep Circadian, Sleep, Chronotype, Mood, Depression, Melatonin

Rare PER3 missense variant that destabilizes the circadian clock protein, shortening circadian period and causing familial advanced sleep phase syndrome 3 with associated seasonal mood vulnerability

rs174553 — FADS1

Chromosome 11 Risk Allele G Category Triglycerides & Fatty Acids Omega-3, Fat Metabolism, Cardiovascular, Nutrition & Metabolism, Inflammation

Intronic variant in the FADS1 gene cluster that reduces delta-5 desaturase activity, impairing conversion of DGLA to arachidonic acid (omega-6) and dietary omega-3 precursors toward EPA, leaving G allele carriers with lower circulating long-chain PUFAs and greater dependence on preformed EPA and DHA