Research — GeneOps

rs2317676 3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that disrupts a microRNA-binding site, increasing ITGB3 expression and platelet activation; the G allele is associated with elevated risk of ischemic stroke outcomes and adverse events on antiplatelet therapy through synergistic platelet receptor gene interactions

Chromosome 17 Risk Allele G Category Von Willebrand & Anticoagulant Proteins Tags Thrombosis, Blood Clotting, Aspirin Response, Pharmacogenomics, Cardiovascular, Cerebrovascular, Thrombophilia

Platelet glycoprotein IIIa (GPIIIa) — encoded by the ITGB3 gene on chromosome 17 — is the beta-3 subunit of integrin αIIbβ3, the most abundant receptor on platelet surfaces. When activated, this integrin binds fibrinogen and mediates platelet aggregation, the final common step in thrombus formation at sites of...

rs236114 Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosome 20p12.3; each A allele is associated with approximately 0.5 years of delayed age at natural menopause, suggesting that reduced MCM8-mediated DNA repair activity modestly accelerates ovarian follicle depletion in people carrying the common T allele

Chromosome 20 Risk Allele T Category Gamete Quality & DNA Repair Tags Ovarian Reserve, Menopause, Fertility, Reproductive Health, DNA Repair, Double-Strand Break Repair

The timing of natural menopause is a direct readout of ovarian reserve — the pool of follicles a woman is born with and depletes over decades. Genetic studies have consistently pointed to one biological process as the dominant determinant of how quickly that pool shrinks: DNA...

rs2414095 Intronic variant in the aromatase gene associated with lower circulating estradiol and higher FSH levels; the A allele reduces aromatase activity and has been linked to higher sperm counts in men and lower bone mineral density

Chromosome 15 Risk Allele A Category Reproductive Hormones Tags Aromatase, Estrogen, Male Fertility, Fertility, Reproductive Health, Steroid Hormones

Aromatase(https://www.ncbi.nlm.nih.gov/gene/1588) is expressed in the gonads, adipose tissue, bone, placenta, breast, and brain. In men, testicular aromatase converts a fraction of circulating testosterone into estradiol, which then feeds back on the hypothalamic–pituitary...

rs25487 Base excision repair scaffold protein that coordinates repair of oxidative DNA damage and single-strand breaks; the Gln variant reduces repair efficiency at the PARP-binding domain

Chromosome 19 Risk Allele T Category Cancer Risk Tags Cancer Risk, DNA Repair, Base Excision Repair, Smoking Interaction, Cancer Screening

Every day, your DNA sustains tens of thousands of lesions from normal metabolism — oxidative hits from mitochondrial respiration, alkylation from reactive metabolites, and spontaneous depurination. The base excision repair (BER) pathway() is the frontline defense against this constant assault, and XRCC1() is its...

rs28929454 SERPINA1 intronic variant strongly associated with elevated mortality in ANCA-associated vasculitis patients; in tight linkage disequilibrium with the regulatory risk variant rs7151526

Chromosome 14 Risk Allele A Category B-Cell Immunity & Antibody-Mediated Disease Tags Protease Inhibitor, Autoimmune, Inflammation, Lung Health, Autoimmunity

Alpha-1 antitrypsin (AAT), encoded by SERPINA1, is the body's principal serine protease inhibitor(https://pubmed.ncbi.nlm.nih.gov/27465791/). The rs28929454 variant is an intronic SERPINA1 polymorphism that has been identified as a significant predictor of mortality in patients with ANCA-associated vasculitis...

rs35929607 Intronic variant in the SPAK kinase gene that has been studied for association with blood pressure regulation through the WNK-SPAK-NCC sodium reabsorption axis

Chromosome 2 Risk Allele G Category Blood Pressure & Hypertension Tags Blood Pressure, Hypertension, Salt Sensitivity, Kidney Function, Cardiovascular, Renal Function

Your kidneys handle roughly 25,000 mmol of sodium every day. How much stays in your body — and how much is excreted — is one of the most important determinants of blood pressure. The STK39 gene encodes SPAK (STE20/SPS1-related proline-alanine-rich kinase)(https://pubmed.ncbi.nlm.nih.gov/18843116/), a kinase that...

rs3733585 Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate transporter locus; the A allele (coding-strand T) is in linkage disequilibrium with known urate-raising haplotypes at SLC2A9 and is associated with modestly elevated serum uric acid through reduced renal urate clearance efficiency; the G allele (coding-strand C) tags the urate-lowering haplotype

Chromosome 4 Risk Allele A Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Kidney Function, Diet, Cardiovascular

Serum uric acid levels are shaped more by a single genomic region — the SLC2A9 gene on chromosome 4 — than by any other locus in the human genome. SLC2A9 encodes GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/), the protein responsible for reabsorbing roughly 90% of filtered uric acid back into the bloodstream...

rs397508072 Nonsense mutation in the cardiac IKs potassium channel causing premature protein truncation; heterozygous carriers develop Romano-Ward long QT syndrome type 1 with risk of life-threatening arrhythmia, while homozygous carriers develop Jervell and Lange-Nielsen syndrome with congenital deafness

Chromosome 11 Risk Allele T Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status

Every heartbeat ends with a carefully timed electrical recovery — the repolarization phase(https://pubmed.ncbi.nlm.nih.gov/33322401/) that resets the cardiac muscle for the next beat. The KCNQ1 gene encodes the pore-forming subunit of the IKs potassium channel — a key contributor to that electrical reset. The Q356X...

rs4253623 Intronic PPARA variant whose minor G allele has been associated with modest myocardial infarction risk and may influence the gene's anti-inflammatory transcriptional activity in vascular tissue

Chromosome 22 Risk Allele G Category Atherogenic Lipoproteins Tags Cardiovascular, Inflammation, Fat Metabolism, Heart Disease, Lipid Metabolism

PPARA(https://pubmed.ncbi.nlm.nih.gov/30020428/) is the molecular target of fibrate drugs and one of the most studied transcription factors in cardiovascular biology. When activated by fatty acids or fibrates, PPARα binds DNA and switches on hundreds of genes controlling fat burning in the liver, heart, and vascular...

rs4752 Synonymous variant in vitamin D binding protein that tags distinct GC haplotypes, contributing to VDBP isoform diversity and influencing immune function, uveitis risk, and vitamin D bioavailability

Chromosome 4 Risk Allele G Category Vitamin D Metabolism Tags Vitamin D, Micronutrients, Bone Health, Immune Function, Autoimmune, Mineral Metabolism

The GC gene encodes vitamin D binding protein (VDBP/DBP)(), the protein responsible for carrying nearly all circulating vitamin D through the bloodstream. The rs4752 variant is a synonymous substitution at codon 299 — it does not change the amino acid sequence of VDBP but acts as a haplotype-defining marker within...