Research — GeneOps

rs397516407 Pathogenic missense variant in the regulatory myosin light chain gene; heterozygous carriers face substantially elevated risk of hypertrophic cardiomyopathy and warrant cardiac evaluation and cascade screening of first-degree relatives

Chromosome 12 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Congenital

Every heartbeat depends on myosin motors pulling actin filaments with exquisite precision. The regulatory myosin light chain — encoded by MYL2 — wraps around the myosin neck like a molecular clamp, stiffening the lever arm and fine-tuning the speed and force of each contraction stroke. rs397516407 (c.488AC,...

rs4149274 Intronic ABCA1 variant influencing HDL-cholesterol levels through altered ABCA1 expression; the A allele is associated with modestly reduced HDL.

Chromosome 9 Risk Allele A Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, HDL Cholesterol

ABCA1 (ATP-binding cassette transporter A1)(https://www.ncbi.nlm.nih.gov/gene/19) is the molecular gatekeeper for HDL biogenesis. Without functional ABCA1, nascent HDL particles cannot form, and excess cellular cholesterol accumulates rather than being transported back to the liver for excretion. This is illustrated...

rs4434553 Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production and is associated with NAFLD risk, iron loading parameters, and age-related macular degeneration in subgroup analyses

Chromosome 7 Risk Allele A Category Vitamins & Nutrient Absorption Tags Iron, Liver Health, Hemochromatosis, Eye Health, Retinal Health, Micronutrients

The TFR2 gene encodes transferrin receptor 2, a liver-expressed iron-sensing protein that plays a central role in calibrating hepcidin(https://pubmed.ncbi.nlm.nih.gov/36324614/). When diferric transferrin (iron-loaded transferrin in the blood) binds TFR2, it triggers a signaling cascade that increases hepcidin...

rs4696480 Promoter variant in Toll-Like Receptor 2 that increases TLR2 expression, associated with atopic dermatitis severity, psoriasis susceptibility, and modulated innate immune responses to bacterial and fungal ligands

Chromosome 4 Risk Allele A Category Innate Immunity & Infection Defense Tags Innate Immunity, Skin Health, Inflammation, Immune System, Immune & Gut, Asthma

Your immune system maintains a constant conversation with the microbial world — sensing bacteria, fungi, and other pathogens through a set of molecular detectors called pattern recognition receptors(https://www.ncbi.nlm.nih.gov/gene/7097). Toll-Like Receptor 2 (TLR2) is one of the most promiscuous of these sensors,...

rs501120 Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevated plasma CXCL12 levels and increased coronary artery disease risk in European GWAS and replication cohorts

Chromosome 10 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Heart Disease, Atherosclerosis, Inflammation, Angiogenesis, Endothelial Health

A region of chromosome 10 sitting roughly 80 kilobases downstream of the CXCL12 gene(https://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12) harbors one of the most consistently replicated non-obvious GWAS signals for coronary artery disease. rs501120 does not change any protein. What it appears to do is turn up...

rs516246 Intronic FUT2 proxy variant tagging secretor status — whether ABO blood group antigens are secreted into body fluids; influences human milk oligosaccharide composition, infant gut microbiome colonisation, and mucosal immunity

Chromosome 19 Risk Allele C Category IBD & Mucosal Immunity Tags Secretor Status, Gut Microbiome, Microbiome, B Vitamins, Autoimmune

Your FUT2 gene determines secretor status — one of the most consequential genetic traits in human biology, influencing not just your own gut immunity but the microbial world you pass on to your children. Secretors express ABO blood group antigens() in their intestinal mucus, saliva, and breast milk. rs516246 is an...

rs53576 Most-studied oxytocin receptor variant, influencing empathy, social sensitivity, stress resilience through social buffering, and emotional regulation

Chromosome 3 Risk Allele A Category Mood & Behavior Tags Cognition, Empathy, Stress, Neurotransmitters

The OXTR gene encodes the oxytocin receptor(), the protein through which the neuropeptide oxytocin exerts its wide-ranging effects on social bonding, empathy, trust, and stress regulation. Oxytocin is sometimes called the "love hormone," but its biology is far more nuanced than that label suggests — it modulates...

rs61753993 Missense variant in von Willebrand factor (p.Asp141Gly) associated with type 1 von Willebrand disease; heterozygous and homozygous carriers may have reduced VWF activity and increased bleeding tendency requiring hematology evaluation

Chromosome 12 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Thrombophilia, Genetic Counseling, Blood Pressure, Inflammation

Von Willebrand factor (VWF) is the molecular bridge between injured blood vessel walls and circulating platelets. Without adequate VWF, even a minor cut can lead to prolonged bleeding. The D141G variant — a single amino acid substitution replacing aspartate with glycine at position 141 of the VWF protein — was...

rs62408925 Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequilibrium (r²=0.95) with rs1866813, a remote cis-regulatory variant that increases NCK1 expression in glomerular podocytes, elevating risk of diabetic nephropathy in type 1 diabetes patients

Chromosome 3 Risk Allele T Category Appetite & Obesity Tags Nephrology, Diabetes, Kidney Disease, Type 1 Diabetes, Chronic Kidney Disease

The kidney's glomerular filter depends on an intricate architecture of specialized cells called podocytes(). rs62408925 sits in the intergenic region at chromosome 3q22.3, in the vicinity of NCK1 — a molecular adaptor that physically connects the podocyte's slit diaphragm protein nephrin to its actin cytoskeleton....

rs6920220 Regulatory variant upstream of TNFAIP3 that reduces A20 expression and impairs NF-kB negative feedback, increasing susceptibility to rheumatoid arthritis and multiple autoimmune diseases

Chromosome 6 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Tags Autoimmune, Inflammation, Rheumatoid Arthritis, Anti-TNF Biologics, Immune & Gut, Lupus

Approximately 185 kilobases upstream of the TNFAIP3 gene sits a regulatory region that controls how much A20 protein your immune cells produce. A20, encoded by TNFAIP3(https://pubmed.ncbi.nlm.nih.gov/20822710/) is the primary brake on NF-kB-driven inflammation — the pathway that amplifies immune responses after...