Research — GeneOps

rs13429458 Intronic variant in THADA, a gene encoding a calcium channel-regulating protein; the C allele increases PCOS risk in Asian women and influences pancreatic beta-cell function in the context of type 2 diabetes

Chromosome 2 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, PCOS, Insulin, Pancreatic Beta Cell, Reproductive Health, Ancestry-Specific

THADA (thyroid adenoma associated) takes its name from a chromosomal translocation breakpoint first identified in thyroid tumors — but the gene's most clinically consequential story is in metabolic and reproductive medicine. THADA encodes a large protein containing armadillo-type repeats that is thought to regulate...

rs16928751 Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with cardiovascular disease risk in the Finnish Diabetes Prevention Study alongside three other ADIPOR2 intronic variants, suggesting it tags an extended risk haplotype affecting adiponectin receptor 2 expression or function in people with impaired glucose tolerance

Chromosome 12 Risk Allele A Category Fat Storage & Energy Tags Adipogenesis, Cardiovascular, Fat Metabolism, Insulin Resistance, Metabolic Health

Adiponectin is one of the body's most important metabolic hormones, produced by fat tissue and acting primarily through two receptors: ADIPOR1 in skeletal muscle and ADIPOR2 in the liver. In a paradox central to metabolic disease, adiponectin levels fall precisely as body fat rises — removing the hormone's...

rs17482753 Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an independent triglyceride-lowering association; the rare T allele is linked to lower fasting triglycerides and reduced metabolic syndrome risk.

Chromosome 8 Risk Allele G Category Triglycerides & Fatty Acids Tags Triglycerides, Fat Metabolism, Cardiovascular, Lipid Metabolism, Metabolic Syndrome

Lipoprotein lipase (LPL()) sits at the epicentre of plasma triglyceride regulation. The chromosomal region surrounding LPL on 8p21.3 is one of the most robustly replicated loci in lipid genetics — large meta-analyses consistently rank it among the top determinants of circulating triglyceride levels. rs17482753 is an...

rs1799971 Mu-opioid receptor variant affecting opioid response, pain sensitivity, and potentially naltrexone efficacy

Chromosome 6 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pain Medication, Addiction, Neurotransmitters, Pharmacogenomics

The OPRM1 gene encodes the mu-opioid receptor, the primary target for morphine, fentanyl, and most prescription opioid painkillers(https://pubmed.ncbi.nlm.nih.gov/34523422/). The A118G variant, also known as Asn40Asp or rs1799971, is a substitution where asparagine is replaced by aspartic acid at residue 40 of the...

rs1800625 Promoter variant at position -429 in the AGER gene that increases RAGE transcription, elevating membrane RAGE and altering soluble sRAGE levels; associated with higher inflammatory signaling through the AGE-RAGE-NF-κB axis and linked to diabetic complications, cancer susceptibility, and sepsis risk

Chromosome 6 Risk Allele G Category Hormones & Sleep Tags Inflammaging, Oxidative Stress, Diabetes, Inflammation, Aging, Cardiovascular

The AGER gene encodes RAGE (Receptor for Advanced Glycation End-Products), a pattern recognition receptor() sitting in the MHC class III region() of chromosome 6. RAGE is expressed on endothelial cells, immune cells, neurons, alveolar epithelium, adipocytes, and cardiomyocytes. When its ligands bind — particularly...

rs1801252 Beta-1 adrenergic receptor variant at position 49 affecting receptor downregulation kinetics, resting heart rate, heart failure prognosis, and endurance exercise capacity

Chromosome 10 Risk Allele A Category Fitness & Body Tags Fitness, Cardiovascular, Exercise Performance, Heart Disease, Drug Response, Hypertension

The ADRB1 gene encodes the beta-1 adrenergic receptor(), the heart's main throttle for sympathetic nervous system signaling. While the Arg389Gly variant (rs1801253) controls how strongly the receptor fires when activated, the Ser49Gly variant at position 49 determines how quickly the receptor is pulled off the cell...

rs1831282 Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C allele (common globally) tags a complement-dysregulation haplotype, while the rare A allele (GRCh38 reference) is protective

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Tags Complement System, Eye Health, Aging, Inflammation, Retinal Health, Immune System

Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in adults over 65 worldwide, and the complement factor H gene (CFH) harbors the strongest known genetic risk signals for this disease. rs1831282 is an intronic variant located at chromosome 1q31.3, position 196,704,862 (GRCh38),...

rs2153960 Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-1 at genome-wide significance; the G allele may favor lower IGF-1 and stronger FOXO3 pathway activation

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

FOXO3 encodes the most consistently replicated longevity gene in human genetics. But not every variant within FOXO3 is a longevity signal — and rs2153960 illustrates that distinction with unusual clarity. This intronic SNP does not itself associate with exceptional lifespan in large meta-analyses, yet it sits at a...

rs2234714 Intronic ABCG1 variant near the promoter region; homozygous carriers of the minor A allele showed a 36% lower odds of coronary artery disease in a Chinese Han cohort, suggesting a modest protective effect linked to the ABCG1 cholesterol efflux locus.

Chromosome 21 Risk Allele G Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Lipid Metabolism, HDL Cholesterol, Atherosclerosis, Macrophage

ABCG1 (ATP-binding cassette transporter G1(https://pubmed.ncbi.nlm.nih.gov/19797709/)) is one of two key transporters that drive reverse cholesterol transport — the pathway that clears excess cholesterol from arterial walls and returns it to the liver for disposal. rs2234714 sits in an intronic region of the ABCG1...

rs2294008 Regulatory variant in the PSCA 5′ UTR that recruits the repressor YY1 to the promoter, suppressing PSCA expression in gastric epithelium and increasing susceptibility to diffuse-type gastric cancer and gastric mucosal atrophy

Chromosome 8 Risk Allele T Category IBD & Mucosal Immunity Tags Gastric Health, H. pylori, Cancer Risk, Bladder Cancer, Digestive Health

PSCA(https://www.ncbi.nlm.nih.gov/gene/8000) is a protein that decorates the surface of gastric epithelial cells and has roles in controlling cell proliferation, adhesion, and the epithelial response to bacterial colonisation. rs2294008 sits in the 5′ UTR() of PSCA, and the T allele at this position creates a...