Research — GeneOps

rs121434369 Most common European allele for glutaric acidemia type 1; complete loss of GCDH enzyme activity when inherited with a second pathogenic allele, causing striatal necrosis during febrile crises if untreated

Chromosome 19 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Carrier Status, Genetic Counseling, Metabolic, Metabolism, Energy Metabolism, Micronutrients

Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that breaks down three amino acids — lysine, hydroxylysine, and tryptophan — in the final steps of their catabolism. When GCDH fails, its substrates (glutaric acid and 3-hydroxyglutaric acid(https://pubmed.ncbi.nlm.nih.gov/19433437/)) accumulate and trigger...

rs121908866 Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH receptor expression; homozygotes develop severe congenital hypothyroidism; heterozygous carriers may have subclinical TSH elevation warranting monitoring

Chromosome 14 Risk Allele A Category Reproductive Hormones Tags Thyroid, Reproductive Health, Fertility, Hormones, Women's Health

The thyroid gland cannot make or release hormones on its own; it requires a continuous signal from the pituitary gland in the form of thyroid-stimulating hormone (TSH). TSH works by binding to its dedicated receptor — the TSH receptor (TSHR)(https://pubmed.ncbi.nlm.nih.gov/9185526/) — and triggering the...

rs121918385 Frameshift deletion in APOB that truncates apolipoprotein B, causing familial hypobetalipoproteinemia — very low LDL cholesterol with cardiovascular protection but hepatic steatosis risk

Chromosome 2 Risk Allele D Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, LDL Cholesterol, Lipid Metabolism

Apolipoprotein B (apoB) is the structural backbone of every VLDL and LDL particle in your bloodstream. Without functional apoB-100, the liver cannot package and export fats into the circulation. The rs121918385 variant is a 1-base-pair deletion in APOB exon 26 that truncates the apoB protein at approximately...

rs12206094 Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1-reversible enhancer activity; T allele raises longevity odds ~22% across European cohorts

Chromosome 6 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, Oxidative Stress, Inflammation, Insulin, Ovarian Reserve, Menopause

FOXO3 is the most consistently replicated longevity gene in humans — the only gene besides APOE whose protective associations have held across independent populations on multiple continents. Most research has focused on rs2802292 and related intronic variants, but the FOXO3 locus harbors a second layer of regulatory...

rs12640088 Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mitochondrial biogenesis capacity, with a documented interaction with BMI in type 2 diabetes risk

Chromosome 4 Risk Allele C Category Fitness & Body Tags Fitness, Endurance, Mitochondria, Diabetes, Energy Metabolism

PPARGC1A() sits at the center of how your body builds and maintains its energy-producing machinery. Every time you exercise aerobically, AMPK and calcium signaling activate PGC-1alpha, which then switches on hundreds of genes responsible for creating new mitochondria and optimizing their efficiency. More PGC-1alpha...

rs12934922 Reduces beta-carotene to retinol (vitamin A) conversion efficiency, contributing to the "poor converter" phenotype

Chromosome 16 Risk Allele T Category Vitamins & Nutrient Absorption Tags Vitamins, Vitamin A, Diet, Food Sensitivity

The BCO1 gene (formerly called BCMO1) encodes beta-carotene oxygenase 1(), the sole enzyme responsible for converting dietary beta-carotene into retinal(), the body's usable form of vitamin A. The rs12934922 variant causes an arginine-to-serine substitution at position 267 of the protein (Arg267Ser), reducing the...

rs1310182 Intronic PTPN22 variant in a transcription factor-binding site, associated with type 1 diabetes in Asian populations where the R620W coding variant is absent

Chromosome 1 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, T-Cell Regulation, Type 1 Diabetes, Immune System, Ancestry-Specific

The PTPN22 gene encodes lymphoid tyrosine phosphatase (LYP), a critical negative regulator of T-cell receptor (TCR) signaling. While the well-known R620W coding variant(https://pubmed.ncbi.nlm.nih.gov/30507064/) is the dominant PTPN22 risk variant in Europeans and absent from Asian populations, rs1310182 represents...

rs13154066 Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene associated with gestational hypertension and preeclampsia risk; the C allele may increase NPR3-mediated peptide clearance, impairing vasodilatory natriuretic signaling during pregnancy

Chromosome 5 Risk Allele C Category Endometriosis & Uterine Health Tags Preeclampsia, Fertility, Reproductive Health, Blood Pressure, Cardiovascular

Under normal circumstances, pregnancy is one of the most vasodilatory states the human body can enter. Cardiac output rises by 40–50%, systemic vascular resistance falls, and blood pressure drops in the first trimester before gradually returning toward pre-pregnancy levels at term. Several molecular systems drive...

rs13210247 Intronic variant in the TRAF3IP2 locus that lies within the antisense lncRNA TRAF3IP2-AS1 and amplifies IL-17 pathway dysregulation; the G allele is a gain-of-function mutation enhancing SRSF10 recruitment that suppresses IRF1-driven Act1 transcription; the G allele independently associates with psoriasis (OR=1.69) and co-occurs on a secondary risk haplotype (OR=1.8) alongside the primary risk haplotype carrying rs13210247_A (OR=2.7)

Chromosome 6 Risk Allele G Category Psoriasis & Spondyloarthropathy Tags Immune & Gut, Autoimmune, Inflammation, Psoriasis, Arthritis, Biologic Therapy

The TRAF3IP2 locus on chromosome 6q21 encodes both the Act1 adaptor protein (TRAF3IP2) and an antisense long noncoding RNA (TRAF3IP2-AS1) that acts as a molecular rheostat controlling how much Act1 protein the cell produces. rs13210247 sits inside an intron of TRAF3IP2 but overlaps the TRAF3IP2-AS1 transcript —...

rs1333040 9p21 locus variant in the ANRIL long non-coding RNA gene associated with intracranial aneurysm and coronary artery disease, with the T allele increasing arterial disease risk across multiple vascular beds

Chromosome 9 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Cerebrovascular, Atherosclerosis, Heart Disease, Angiogenesis, Inflammaging

The chromosome 9p21.3 region is one of the most studied genetic risk loci in human disease, harboring the long non-coding RNA gene CDKN2B-AS1(https://pubmed.ncbi.nlm.nih.gov/20386740/). rs1333040 is an intronic variant within this gene that has been independently associated with two major forms of arterial disease:...