Research — GeneOps

rs11627387 — MTHFD1

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

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

rs12243326 — TCF7L2 TCF7L2 Incretin Response Depth Variant

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

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

rs12368672 — STAT6 STAT6 intronic variant

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

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

rs12459419 — CD33 CD33 exon 2 splicing variant

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

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

rs12636454 — PPARG PPARG rs12636454

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

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

rs1341164 — CYP2C8

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

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

rs1457043 — CYP7A1

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

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

rs174568 — FADS2 FADS2 C>T (delta-6 desaturase)

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

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.

rs17493811 — AGER

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

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

rs1800012 — COL1A1 Sp1 Binding Site

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

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