Research — GeneOps

rs11627387 Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, associated with increased risk of congenital heart defects and neural tube defects — particularly under low dietary folate conditions

Chromosome 14 Risk Allele A Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Congenital, Cardiovascular, Embryo Development

MTHFD1 encodes the cytoplasmic trifunctional C1-tetrahydrofolate synthase(https://pubmed.ncbi.nlm.nih.gov/22108709/) — three consecutive reactions that interconvert folate one-carbon carriers in the cytoplasm. This central enzyme feeds activated one-carbon units into purine synthesis, thymidylate synthesis, and the...

rs12243326 Intronic TCF7L2 depth variant replicated across multiple populations as a secondary type 2 diabetes risk signal, likely tagging a distinct regulatory element that modulates Wnt/TCF7L2-driven proglucagon expression and incretin signaling depth

Chromosome 10 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Insulin Resistance, Metabolic, Diet, Energy Metabolism

TCF7L2 (Transcription Factor 7 Like 2) contains the strongest common genetic risk factor for type 2 diabetes(https://pubmed.ncbi.nlm.nih.gov/16415884/) in the human genome. The locus spans roughly 92 kb of chromosome 10 and harbors multiple correlated variants, of which rs7903146 is the primary signal. rs12243326 is...

rs12368672 Deep intronic variant in STAT6 that modulates IL-4/IL-13 signal transduction; the G allele is associated with eosinophilic esophagitis relapse on proton pump inhibitor therapy and with altered eosinophil recruitment in atopic inflammation, likely through effects on STAT6 expression or splicing in Th2-activated tissue

Chromosome 12 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, JAK-STAT Signaling, Inflammation, Immune System, Digestive Health

STAT6(https://www.ncbi.nlm.nih.gov/gene/6778) sits at the convergence of the allergic inflammation circuit. When IL-4 or IL-13 binds their shared receptor subunit (IL-4Rα), JAK kinases phosphorylate STAT6, enabling it to dimerize and translocate to the nucleus, where it drives expression of IgE class-switching...

rs12459419 Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — the T allele promotes exon 2 skipping, producing a short CD33 isoform that lacks the sialic acid-binding IgV domain and enhances microglial phagocytosis of amyloid-beta, reducing Alzheimer's disease risk

Chromosome 19 Risk Allele C Category Neurology & Cognition Tags Alzheimer's, Neuroinflammation, Neurodegeneration, Brain Health, Cognitive Decline, Immune Function

CD33 (Siglec-3)(https://pubmed.ncbi.nlm.nih.gov/23946390/) is expressed abundantly on microglia, the brain's resident immune cells and primary clearers of amyloid-beta plaques. In Alzheimer's disease, microglia fail to efficiently engulf and degrade amyloid deposits — and CD33 is a key molecular brake on that...

rs12636454 Intronic PPARG variant associated with modest reduction in type 2 diabetes risk — located in the master regulator of adipogenesis and the pharmacological target of insulin-sensitizing thiazolidinedione drugs

Chromosome 3 Risk Allele T Category Fat Storage & Energy Tags Adipogenesis, Diabetes, Insulin Resistance, Metabolic, Fat Metabolism, Diet

PPARG (Peroxisome Proliferator-Activated Receptor Gamma()) is one of the most clinically relevant metabolic genes in the human genome. It controls whether stem cells become fat cells, how efficiently adipose tissue stores and releases lipids, and how sensitively peripheral tissues respond to insulin. rs12636454 is...

rs1341164 Intronic CYP2C8 variant tagging a haplotype associated with altered taxane drug clearance and survival outcomes in chemotherapy-treated patients

Chromosome 10 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Chemotherapy, Cancer Treatment, Cardiovascular

CYP2C8 is the liver's primary enzyme for metabolizing paclitaxel(https://www.ncbi.nlm.nih.gov/gene/1558) and its newer cousin cabazitaxel. It is also responsible for clearing rosiglitazone and pioglitazone (thiazolidinedione diabetes drugs), repaglinide (a short-acting insulin secretagogue), and the anti-malarial...

rs1457043 Intronic variant in CYP7A1 that tags a haplotype block influencing cholesterol 7α-hydroxylase expression; CC homozygotes show elevated LDL-cholesterol and increased subclinical atherosclerosis risk across multiple population studies

Chromosome 8 Risk Allele C Category Cholesterol & Lipoproteins Tags Cholesterol, Lipid Metabolism, Cardiovascular, LDL Cholesterol, Atherosclerosis, Liver Health

CYP7A1(https://www.ncbi.nlm.nih.gov/gene/1581) controls the single most important route by which the body permanently removes cholesterol. Every day, cholesterol 7α-hydroxylase converts a portion of your liver's cholesterol pool into primary bile acids — cholic acid and chenodeoxycholic acid — which are secreted...

rs174568 Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-limiting enzyme for long-chain PUFA synthesis; the T allele reduces conversion of linoleic acid to GLA and ALA to SDA, lowering downstream arachidonic acid, EPA, and DHA production.

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

Before your body can make the long-chain omega-3 and omega-6 fats that drive anti-inflammatory signaling, membrane integrity, and brain function, it must clear a biochemical bottleneck: the first desaturation step. The enzyme responsible is delta-6 desaturase (D6D)(https://pubmed.ncbi.nlm.nih.gov/19148276/). Without...

rs17493811 Tag SNP in the AGER 3′ downstream region associated with increased type 1 diabetes risk in HLA-predisposed individuals, implicating the AGE-RAGE inflammatory axis in autoimmune beta-cell susceptibility

Chromosome 6 Risk Allele G Category Hormones & Sleep Tags Type 1 Diabetes, Autoimmune, Inflammation, Neuroinflammation, Metabolic Health, Sleep

AGER encodes RAGE (Receptor for Advanced Glycation End-Products), a pattern recognition receptor(https://pubmed.ncbi.nlm.nih.gov/22211895/) embedded in chromosome 6's Major Histocompatibility Complex (MHC) region. The MHC neighbourhood matters: RAGE sits among the densest concentration of immune-regulatory genes in...

rs1800012 Sp1 transcription factor binding site polymorphism affecting collagen production, bone mineral density, and osteoporotic fracture risk

Chromosome 17 Risk Allele A Category Fitness & Body Tags Bone & Joint, Osteoporosis, Calcium, Vitamin D, Fracture Risk, Collagen, Sports Injury

Type I collagen is the most abundant protein in bone, accounting for roughly 90% of the organic bone matrix(https://www.ncbi.nlm.nih.gov/books/NBK507817/). The COL1A1 gene encodes the alpha-1 chain, two of which combine with one alpha-2 chain to form the collagen triple helix. Deep within the first intron of COL1A1...