Research — GeneOps

rs705117 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

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

The GC gene encodes vitamin D binding protein (VDBP/DBP)(), the principal carrier that transports vitamin D metabolites through the blood. rs705117 is an intronic variant in GC that has been independently associated with circulating VDBP concentrations — separate from the well-known isoform-defining variants rs4588...

rs11545076 Promoter variant that increases GGH expression, accelerating hydrolysis of intracellular folate polyglutamates and reducing cellular folate retention

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

Inside every cell, folate is trapped in a useful form: attached to chains of glutamate molecules called polyglutamates(). This trapping is essential — polyglutamated folate is the working form that enzymes in the methylation cycle and nucleotide synthesis actually use. GGH (gamma-glutamyl hydrolase) is the enzyme...

rs11705701 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

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

IGF2BP2 is an mRNA-binding protein with an unusual job: it acts as a post-transcriptional regulator of insulin-like growth factor 2 (IGF2), a signaling molecule critical for pancreatic development, beta cell survival, and adipose tissue metabolism. The rs11705701 variant sits about 2 kilobases upstream of the gene...

rs12044852 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

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

The CD58 gene(https://pubmed.ncbi.nlm.nih.gov/19237575/) harbours a cluster of intronic variants in its first intron that collectively regulate LFA-3 expression and multiple sclerosis susceptibility. The rs12044852 C/A polymorphism is one of three strongly associated markers in this locus (alongside rs2300747 and...

rs12141494 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

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

CHI3L1 encodes YKL-40(https://pubmed.ncbi.nlm.nih.gov/36844232/), making it one of the most clinically relevant biomarkers of non-T2, severe asthma. Most genetic studies of CHI3L1 have focused on the promoter variant rs4950928 (-131CG), which modulates transcription start site activity and produces the largest...

rs12304921 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

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

The SLC11A2 gene encodes Divalent Metal Transporter 1 (DMT1)(https://medlineplus.gov/genetics/gene/slc11a2/), the most important protein controlling how much dietary iron enters your body. Located at chromosome 12q13.12, SLC11A2 is expressed in the duodenum, liver, kidney, and — critically for diabetes risk — in...

rs12713559 Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%, classified as a variant of uncertain significance for familial-defective apolipoprotein B

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

Apolipoprotein B-100 (ApoB) is the structural backbone of LDL particles — every LDL particle carries exactly one ApoB-100 protein, and it is this protein that docks with the LDL receptor on liver cells to clear LDL from the bloodstream. The rs12713559 variant causes a cysteine to replace an arginine at position 3558...

rs12980275 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

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

When Tanaka and colleagues performed a genome-wide association study in Japanese hepatitis C patients in 2009, two variants near the IL28B gene emerged with striking statistical force: rs8099917 and rs12980275. The latter — a simple A-to-G change on chromosome 19 — reached P=1.93×10⁻¹³ for null virological response...

rs150812083 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

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

The PER3 gene(https://www.ncbi.nlm.nih.gov/gene/8863) is a master timekeeper in every cell of your body. Its protein accumulates during the day, enters the nucleus, and shuts down the very transcription machinery that made it — completing one oscillation roughly every 24 hours. The rs150812083 variant swaps a...

rs174553 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

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

Your body cannot synthesize omega-3 and omega-6 fats from scratch. It starts with short-chain precursors — alpha-linolenic acid (ALA) from flaxseed and walnuts for omega-3, linoleic acid (LA) from vegetable oils for omega-6 — and extends them through a series of enzymatic steps into the longer-chain forms that...