Research — GeneOps

rs2153157 Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more efficiently in oocytes, raising SYCP2L expression and supporting primordial follicle survival — the G allele reduces expression and associates with lower anti-Müllerian hormone levels and earlier natural menopause

Chromosome 6 Risk Allele G Category Fertility & Ovarian Function Tags Ovarian Reserve, Menopause, Fertility, Reproductive Health, Women's Health, Genomic Stability

Inside the nucleus of every primordial follicle oocyte, a molecular scaffold called the synaptonemal complex zips homologous chromosomes together and guides the recombination that generates genetic diversity. SYCP2L — synaptonemal complex protein 2-like — is the centromere anchor of that scaffold, expressed...

rs2187668 Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac disease and associated with multiple autoimmune conditions

Chromosome 6 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Celiac Disease, Gluten Sensitivity, Type 1 Diabetes, Autoimmunity, HLA

The HLA-DQA1(https://www.ncbi.nlm.nih.gov/gene/3117) gene encodes one chain of the HLA-DQ protein complex, which sits on the surface of antigen-presenting cells and determines what peptide fragments get shown to T cells. The rs2187668 SNP is a tag variant(https://pubmed.ncbi.nlm.nih.gov/18509540/) that efficiently...

rs2269475 Missense variant in allograft inflammatory factor 1 (Iba1), a macrophage-expressed calcium-binding protein in the MHC class III region, associated with rheumatoid arthritis susceptibility and systemic sclerosis

Chromosome 6 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Inflammation, Rheumatoid Arthritis, Macrophage, MHC Antigen Presentation, Immune Response

The AIF1 gene encodes allograft inflammatory factor 1(https://www.ncbi.nlm.nih.gov/gene/199) expressed predominantly in macrophages and microglia. Sitting within the densely packed MHC class III region(https://pubmed.ncbi.nlm.nih.gov/24974925/) alongside TNF and other inflammatory mediators, AIF1 plays a central...

rs2270915 Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, independently associated with diastolic dysfunction (OR 1.94) and reduced salt-sensitivity of blood pressure

Chromosome 5 Risk Allele G Category Blood Pressure & Hypertension Tags Cardiovascular, Blood Pressure, Hypertension, Heart Disease, Salt Sensitivity

Your heart is not only a pump — it is an endocrine organ. When the cardiac chambers come under pressure, they release natriuretic peptides(https://pubmed.ncbi.nlm.nih.gov/24465655/). Three receptors govern how the body responds to these signals. NPR1 and NPR2 activate protective cGMP signaling. NPR3 (also called...

rs2279744 Regulatory variant in the MDM2 promoter that increases Sp1 transcription factor binding, raising MDM2 levels and accelerating p53 degradation — associated with earlier age of cancer onset

Chromosome 12 Risk Allele G Category Cancer Risk Tags Cancer Risk, p53 Pathway, Tumor Suppressor, Cancer Screening

The p53 protein is often called the "guardian of the genome" — it patrols cells for DNA damage and triggers either repair or self-destruction when something goes wrong. But p53 itself is kept in check by MDM2(https://pubmed.ncbi.nlm.nih.gov/15550242/), which acts as p53's gatekeeper — constantly breaking it down to...

rs2288904 Missense variant that impairs platelet-neutrophil binding and blocks flow-dependent NETosis; carriers of the Q154 (A) allele have ~15–30% reduced VTE risk

Chromosome 19 Risk Allele G Category Von Willebrand & Anticoagulant Proteins Tags Thrombosis, Blood Clotting, Cardiovascular, Inflammation, Innate Immunity, Blood Thinners, Thrombophilia

Venous thromboembolism — comprising deep vein thrombosis (DVT) and pulmonary embolism (PE) — affects roughly 1–2 per 1,000 people per year and is the third leading cause of cardiovascular death globally. Most genetic risk factors operate through classical coagulation pathways: clotting factors, fibrinolysis,...

rs2305957 Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the A allele is associated with increased mitotic-origin embryo aneuploidy, reduced blastocyst formation in IVF, and elevated early recurrent miscarriage risk in women; HSPA4L itself is highly expressed in spermatogenic cells and required for normal sperm production

Chromosome 4 Risk Allele A Category Gamete Quality & DNA Repair Tags Male Fertility, Sperm Quality, Fertility, Reproductive Health, Embryo Development

A 2015 landmark study in Science identified rs2305957 — a variant on chromosome 4 within a low-recombination haplotype block spanning several genes including HSPA4L and PLK4 — as a maternal genetic risk factor for mitotic-origin embryo aneuploidy(https://pubmed.ncbi.nlm.nih.gov/25859044/). The A allele of rs2305957...

rs2968864 Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulates QTc interval duration; C allele shortens QTc by ~1.4–1.8 ms per allele and tags an independent repolarization-modifying signal at the KCNH2 locus

Chromosome 7 Risk Allele C Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Cardiovascular, Heart Disease, Pharmacogenomics, Drug Metabolism

The KCNH2 gene at 7q36.1 encodes Kv11.1, universally known as the hERG potassium channel(https://pubmed.ncbi.nlm.nih.gov/19305408/). IKr is the dominant current terminating each heartbeat. When IKr is reduced — by rare loss-of-function mutations, by common variants, or by drugs that block the hERG channel pore — the...

rs3829251 Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was the top GWAS hit for lower circulating 25-hydroxyvitamin D in Ahn et al. 2010 (P = 3.4×10⁻⁹), reducing 7-dehydrocholesterol availability for skin vitamin D3 synthesis

Chromosome 11 Risk Allele A Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Immune System, Cholesterol, Cardiovascular

When Ahn and colleagues scanned the genomes of 6,722 individuals for variants associated with circulating vitamin D levels, the strongest signal they found on chromosome 11 was rs3829251 — a variant sitting in an intron of NADSYN1, a gene encoding NAD synthetase 1. The p-value reached 3.4×10⁻⁹ — genome-wide...

rs4149338 3'UTR variant in the ATP-binding cassette transporter A1 gene; the G allele (homozygous GG) is enriched in ischemic stroke patients and associates with lower total cholesterol, suggesting impaired cholesterol efflux capacity may elevate cerebrovascular risk

Chromosome 9 Risk Allele G Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, Cerebrovascular, HDL Cholesterol, Lipid Metabolism, Fat Metabolism

Cholesterol doesn't simply move through the bloodstream on its own. In arterial walls and the brain, cells loaded with excess cholesterol depend on a specialized transporter — ABCA1 (ATP-binding cassette transporter A1)(https://pubmed.ncbi.nlm.nih.gov/35219812/) — to offload that cholesterol. rs4149338 sits in the...