Research — GeneOps

rs6013897 Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — modulates the rate at which active vitamin D is degraded

Chromosome 20 Risk Allele A Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Diet, Cardiovascular, Mineral Metabolism

Every cell that responds to vitamin D must also be able to shut the signal off. CYP24A1() encodes the enzyme that serves as the primary off-switch for vitamin D signaling. It degrades both the circulating storage form (25(OH)D()) and the potent active hormone (1,25(OH)₂D()). The variant rs6013897, located near the...

rs10925260 Intronic MTR variant associated with altered methionine synthase expression and neural tube defect risk

Chromosome 1 Risk Allele C Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Folate

Methionine synthase (MTR), also known as MS, carries out one of the most important reactions in human metabolism: it converts homocysteine() back into methionine using methylcobalamin (active B12) as a cofactor and 5-methylTHF (methylfolate) as the methyl donor. This single reaction links folate metabolism and B12...

rs11558471 3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRNA expression via allele-specific mechanisms, providing additional signal on zinc-mediated insulin processing and type 2 diabetes susceptibility at this locus

Chromosome 8 Risk Allele A Category Blood Sugar & Diabetes Tags Zinc, Insulin, Diabetes, Insulin Resistance, Metabolic Health, Cardiovascular

The SLC30A8 gene(https://www.ncbi.nlm.nih.gov/gene/169026) sits at one of the most replicated type 2 diabetes risk loci in the human genome. Most attention has focused on the missense variant rs13266634 (Arg325Trp)(https://www.ncbi.nlm.nih.gov/snp/rs13266634), but the locus harbors additional variants with...

rs11808092 Missense variant in EVI5's coiled-coil domain altering immune cell trafficking and multiple sclerosis susceptibility

Chromosome 1 Risk Allele A Category Neurology & Cognition Tags Autoimmune, Immune & Autoimmune, Multiple Sclerosis, Inflammation, Immune System, T-Cell Regulation

The EVI5 gene(https://www.omim.org/entry/602942) encodes a protein that belongs to the TBC (Tre-2/Bub2/Cdc16) domain family of GTPase-activating proteins. Its primary cellular job is to activate Rab11, a small GTPase that coordinates the recycling of membrane vesicles during cell division and intracellular...

rs11868035 SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with type 2 diabetes susceptibility, insulin resistance, triglyceride levels, and liver fibrosis risk.

Chromosome 17 Risk Allele A Category Fat Storage & Energy Tags Insulin Resistance, Diabetes, Lipid Metabolism, Triglycerides, Liver Health, Fat Metabolism

Deep inside your liver cells, a protein called SREBP-1c acts as the master switch for de novo lipogenesis(https://pubmed.ncbi.nlm.nih.gov/18192539/). Under normal conditions, insulin turns this switch on after meals — signaling the liver to convert surplus glucose into fat. The rs11868035 variant in the SREBF1 gene...

rs12123821 Common regulatory variant in the FLG locus associated with impaired skin barrier function and substantially elevated risk for atopic dermatitis (eczema)

Chromosome 1 Risk Allele T Category Allergy & Atopic Disease Tags Skin Health, Autoimmune, Inflammation, Asthma, Skin, Immune Response

Your skin is not just a passive envelope — it is an active immune barrier, and filaggrin is one of its most critical structural proteins. FLG (filaggrin) is produced in huge quantities in the outermost layers of the epidermis, where it aggregates keratin filaments(https://pubmed.ncbi.nlm.nih.gov/16550169/) and is...

rs12447924 Upstream promoter variant in CETP that tags the HDL-raising haplotype block — C allele carriers have lower HDL cholesterol through modestly increased CETP-mediated cholesterol transfer from HDL to VLDL

Chromosome 16 Risk Allele C Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Diet, Triglycerides

Cholesteryl ester transfer protein (CETP) is the molecular shuttle that remodels your lipoprotein particles. Operating in blood plasma, it exchanges cholesteryl esters(https://pubmed.ncbi.nlm.nih.gov/2044257/) from HDL particles for triglycerides from VLDL and LDL. The net effect: each CETP transaction depletes HDL...

rs12721629 Missense variant causing substrate-dependent reduced CYP3A4 activity, most prevalent in Japanese and East Asian populations

Chromosome 7 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Chemotherapy, Cancer Treatment, Immunosuppressants

CYP3A4 is the most abundant drug-metabolizing enzyme in the human liver, responsible for the biotransformation of approximately 50% of all clinically used medications(https://pubmed.ncbi.nlm.nih.gov/12814972/). The CYP3A416B haplotype, defined primarily by the rs12721629 variant, carries a missense substitution...

rs139315125 Rare PER3 missense variant that co-occurs on the FASPS3 haplotype with Pro415Ala (rs150812083), further destabilizing the circadian clock protein and contributing to advanced sleep phase and 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) encodes a protein that accumulates during the day, translocates into the nucleus, and represses the CLOCK-BMAL1 transcription complex that drove its own synthesis — completing one full oscillation every ~24 hours. The rs139315125 variant introduces an arginine at...

rs146582474 Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity at the SLC7A7 intron 6 splice site, causing lysinuric protein intolerance when homozygous — a multisystem recessive disorder of cationic amino acid transport

Chromosome 14 Risk Allele A Category Metabolic Enzymes & Rare Disorders Tags Metabolic, Urea Cycle, Renal Function, Lung Health, Autoimmune, Genetic Counseling

Every cell in the small intestine and kidney proximal tubule faces a fundamental challenge: cationic amino acids — lysine, arginine, and ornithine(https://pubmed.ncbi.nlm.nih.gov/10080182/) — must be absorbed across the basolateral membrane and returned to the bloodstream. SLC7A7 encodes y+LAT1, the catalytic...