Research — GeneOps

rs2466293 3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding sites, altering ZnT8 expression in pancreatic beta cells and influencing type 2 diabetes, type 1 diabetes, and gestational diabetes risk

Chromosome 8 Risk Allele G Category Blood Sugar & Diabetes Tags Zinc, Insulin, Diabetes, Insulin Resistance, Metabolic Health, Women's Health

The SLC30A8 gene() is already known for its missense variant rs13266634, which alters the ZnT8 protein structure. But rs2466293 operates through a completely different mechanism: it sits in the 3' untranslated region of the gene and changes how the cell regulates how much ZnT8 is produced in the first place. Rather...

rs28371706 Decreased-function CYP2D6 allele common in African populations, reducing metabolism of antidepressants, antipsychotics, opioids, and tamoxifen

Chromosome 22 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Antidepressants, Pain Medication, Ancestry-Specific, Pharmacogenomics

CYP2D6 is the body's workhorse for metabolizing about 25% of all clinical medications — antidepressants, antipsychotics, opioid analgesics, and the breast cancer drug tamoxifen among them. The 17 allele | rs28371706, defining the CYP2D617 haplotype together with p.Cys296Arg and p.Ser486Thr is the most clinically...

rs34714364 Synonymous variant in CA14 near APH1A; T allele is associated with morning chronotype (OR=1.12) and tags regulatory variation at the gamma-secretase locus, linking circadian preference to APP cleavage biology and Alzheimer's sleep pathology risk

Chromosome 1 Risk Allele T Category Hormones & Sleep Tags Chronotype, Circadian, Sleep, Alzheimer's, Neurodegeneration, Melatonin

Near the APH1A gene on chromosome 1, a synonymous variant in the adjacent CA14 gene tags regulatory differences at one of the most unexpected intersections in human genetics: the overlap between when you naturally prefer to wake up and how your brain processes the amyloid precursor protein (APP)....

rs35136575 Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma apolipoprotein E and LDL cholesterol — rare G allele carriers have a favorable lipid profile

Chromosome 19 Risk Allele G Category Triglycerides & Fatty Acids Tags LDL Cholesterol, Cholesterol, Lipid Metabolism, Cardiovascular, Atherosclerosis, Fat Metabolism

Roughly 27 kilobases downstream of the APOE gene() lies a compact enhancer element called HCR-2(https://pubmed.ncbi.nlm.nih.gov/7592836/). Most genetic research on chromosome 19q13 focuses on the famous APOE ε2/ε3/ε4 isoforms (rs429358, rs7412), which differ in protein sequence. The rs35136575 variant operates one...

rs3774261 Intronic ADIPOQ variant that reduces circulating adiponectin levels in G allele carriers, blunting insulin sensitization, fatty acid oxidation, and lipid-lowering response to caloric restriction

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Triglycerides, Cardiovascular, Metabolic, Fat Metabolism

Adiponectin is the fat cell's best-behaved hormone: it travels from adipose tissue to muscle and liver to promote glucose uptake, suppress triglyceride synthesis, and dampen inflammation. Higher circulating levels predict lower risk of type 2 diabetes, metabolic syndrome, and cardiovascular disease(). rs3774261 is...

rs551397 Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks complement dysregulation and elevated AMD susceptibility, while the T allele is protective

Chromosome 1 Risk Allele C Category Longevity & Aging Tags Complement System, Eye Health, Aging, Inflammation, Immune System, Longevity

The complement factor H gene (CFH) spans nearly 100 kilobases on chromosome 1q31.3 and encodes the central brake on the alternative complement pathway. When Factor H is working normally, it binds C3b(https://www.ncbi.nlm.nih.gov/gene/3075) and prevents it from triggering an amplifying cascade that damages host...

rs6596473 Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) associated with modestly lower plasma vitamin C levels and increased risk of aggressive periodontitis; the C allele forms part of the Crohn disease risk haplotype at the SLC23A1 locus

Chromosome 5 Risk Allele C Category Vitamins & Nutrient Absorption Tags Vitamin C, Vitamins, Micronutrients, Antioxidants, Diet, Periodontal Disease

The human body cannot synthesise vitamin C. Every milligram of ascorbate() in circulation arrived through an active transport mechanism: SVCT1() extracts ascorbate from ingested food in the gut and conserves it in the kidneys before it can be lost in urine. rs6596473 is an intronic variant within the SLC23A1 gene —...

rs6902123 Intronic PPARD variant that independently impairs hepatic fat mobilization during lifestyle intervention; C-allele carriers show smaller reductions in liver fat regardless of how much total body fat they lose, linking this locus specifically to ectopic liver lipid regulation rather than general adiposity

Chromosome 6 Risk Allele C Category Fitness & Body Tags Fat Metabolism, Exercise, Liver, Insulin, Diet

PPARδ() is one of the most exercise-responsive genes in the human genome. Most genetic research on PPARD focuses on skeletal muscle responses to training — but rs6902123 stands apart: this intronic variant independently controls how effectively lifestyle intervention shrinks liver fat, and it does so without simply...

rs7664413 Intronic variant in the primary lymphangiogenesis growth factor gene associated with elevated lymphedema risk and impaired lymphatic vascular support

Chromosome 4 Risk Allele T Category Innate Immunity & Infection Defense Tags Lymphatic, Lipedema, Fat Metabolism, Cardiovascular, Inflammation, Women's Health

The lymphatic system is the body's drainage network — a parallel circulatory system that collects interstitial fluid, immune cells, and lipids from tissues and returns them to the bloodstream. Without functional lymphatic vessels, fluid accumulates in tissues, fat depots become inflamed, and...

rs76992529 Most common amyloidogenic TTR variant in African Americans, causing late-onset hereditary transthyretin cardiac amyloidosis (hATTR-CM); now treatable with TTR stabilizers

Chromosome 18 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Amyloidosis, Cardiovascular, Heart Disease, Arrhythmia, Ancestry-Specific, Genetic Counseling

Transthyretin (TTR) is a liver-produced protein that transports thyroid hormone and retinol-binding protein through the bloodstream as a stable four-unit complex (tetramer). The Val142Ile variant — a single-letter change replacing valine with isoleucine at position 142 of the precursor protein (position 122 in the...