Research — GeneOps

rs2854116 APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising plasma triglycerides and NAFLD risk

Chromosome 11 Risk Allele C Category Triglycerides & Fatty Acids Tags Triglycerides, Fat Metabolism, Cardiovascular, Diet, Cholesterol

Every meal sends a wave of triglyceride-rich particles into your bloodstream. How quickly those particles are cleared depends partly on a protein called ApoC-III(https://pubmed.ncbi.nlm.nih.gov/20335584/). The APOC3 gene encodes this protein, and its promoter contains an insulin response element — a molecular switch...

rs28933979 Most common pathogenic TTR variant causing hereditary transthyretin amyloidosis (hATTR) with peripheral neuropathy and cardiomyopathy

Chromosome 18 Risk Allele A Category Longevity & Aging Tags Neuropathy, Cardiovascular, Neurodegeneration, Amyloidosis, Longevity, Genetic Counseling

Transthyretin (TTR) is a protein made primarily in the liver that carries thyroid hormone and vitamin A(https://www.ncbi.nlm.nih.gov/books/NBK1194/) through the bloodstream. Normally, TTR exists as a stable four-molecule complex (tetramer). The Val30Met mutation — a single-letter change replacing valine with...

rs3736228 Wnt signaling co-receptor variant affecting bone mineral density and fracture risk

Chromosome 11 Risk Allele T Category Fitness & Body Tags Bone & Joint, Osteoporosis, Cardiovascular, Exercise, Aging, Vitamin D

Your bones are living tissue, constantly remodeling themselves in response to stress, hormones, and nutrition. At the heart of this process is the Wnt signaling pathway(https://pubmed.ncbi.nlm.nih.gov/11823643/). LRP5 (low-density lipoprotein receptor-related protein 5) acts as a co-receptor in this pathway, working...

rs397516933 Nonsense variant in desmoplakin that truncates the protein at codon 1277, causing haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic cardiomyopathy with left ventricular fibrosis

Chromosome 6 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Congenital, Fibrosis, Genetic Counseling, Carrier Status

Heart muscle cells endure relentless mechanical force with every beat — roughly 100,000 contractions per day. Holding adjacent cells together at sites of peak stress are desmosomes(https://pubmed.ncbi.nlm.nih.gov/32372669/), and desmoplakin (DSP) is their central load-bearing component. The Gln1277Ter variant — a...

rs520354 Intronic APOB variant where the A allele (plus strand) is associated with approximately 2-fold increased bile duct cancer risk in men; the G allele is common in East Asian populations and carries no elevated biliary risk

Chromosome 2 Risk Allele A Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, Diet

Apolipoprotein B (ApoB) is far more than a cardiovascular protein. While ApoB-100 is best known as the structural backbone of LDL particles(https://omim.org/entry/107730), ApoB also plays a central role in bile acid metabolism and biliary lipid secretion. The liver exports cholesterol into bile via ABCG5/G8...

rs5743618 Coding variant replacing isoleucine with serine at TLR1 position 602, disrupting a transmembrane trafficking motif and preventing TLR1 from reaching the cell surface — reducing TLR1/TLR2 heterodimer signaling in response to bacterial triacylated lipopeptides

Chromosome 4 Risk Allele A Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Immune System

Bacteria don't invade quietly. The moment a triacylated lipopeptide from a mycobacterium, spirochete, or gram-positive organism reaches your innate immune cells, it should trigger a rapid response — but only if Toll-Like Receptor 1 (TLR1)(https://www.ncbi.nlm.nih.gov/gene/7097) has reached the cell surface. The...

rs601338 Determines secretor status — whether ABO blood group antigens are secreted into bodily fluids, affecting gut microbiome, vitamin B12 levels, and infection susceptibility

Chromosome 19 Risk Allele A Category Vitamins & Nutrient Absorption Tags Vitamins, Vitamin B12, Microbiome, Secretor Status, B Vitamins, Food Sensitivity

The FUT2 gene encodes fucosyltransferase 2(), an enzyme that determines one of the most fundamental divisions in human biology: whether you are a "secretor" or a "non-secretor." Secretors express ABO blood group antigens() on their mucosal surfaces and in bodily fluids like saliva and intestinal mucus. Non-secretors...

rs619203 Missense variant in the ROS1 receptor tyrosine kinase associated with atherothrombotic cardiovascular risk in some populations

Chromosome 6 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Heart Disease, Atherosclerosis, Inflammation, Cerebrovascular

ROS1 encodes a receptor tyrosine kinase — a membrane-spanning signalling protein that responds to extracellular cues by triggering intracellular phosphorylation cascades that govern cell growth, differentiation, and survival. Unlike its better-known oncogenic role in non-small cell lung...

rs6311 Regulatory variant in serotonin 2A receptor gene affecting SSRI side effects and potentially treatment response

Chromosome 13 Risk Allele C Category Mood & Behavior Tags Mental Health, Antidepressants, Neurotransmitters, Drug Metabolism

The serotonin 2A receptor gene (HTR2A) encodes one of the brain's most important receptors for serotonin signaling(https://pubmed.ncbi.nlm.nih.gov/). The rs6311 polymorphism sits in the promoter region of this gene, 1438 bases upstream of the transcription start site, where it influences how much receptor protein...

rs6905288 Adipose tissue vascularization variant near VEGFA influencing fat distribution, insulin resistance, and waist-to-hip ratio with strong female-specific effects

Chromosome 6 Risk Allele A Category Vascular Inflammation & Remodeling Tags Fat Metabolism, Cardiovascular, Insulin, Obesity

VEGFA (Vascular Endothelial Growth Factor A) encodes the master regulator of angiogenesis(). While VEGFA is widely known for its role in wound healing and cancer biology, it plays a surprisingly important role in adipose tissue function. Fat tissue requires an extensive blood vessel network to function properly —...