Research — GeneOps

rs1799752 The causal ACE insertion/deletion structural variant — presence or absence of a 287-bp Alu element in intron 16 drives ACE enzyme levels, with the I allele lowering ACE activity (endurance advantage) and the D allele raising it (power/strength adaptation)

Chromosome 17 Risk Allele D Category Fitness & Body Tags Fitness, Endurance, Sprint & Power, Cardiovascular, Muscle

The angiotensin-converting enzyme() gene contains one of the most studied variants in exercise genetics — and this entry covers the variant itself, not its proxy. rs1799752 is the actual 287-base-pair Alu repeat insertion/deletion in intron 16 of ACE; it is the causal variant that drives the differences in...

rs1799987 Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%; the G allele lowers surface CCR5 density on immune cells, slowing HIV disease progression, while the A allele drives higher CCR5 levels and greater monocyte recruitment to atherosclerotic plaques

Chromosome 3 Risk Allele A Category Vascular Inflammation & Remodeling Tags Atherosclerosis, Cardiovascular, Inflammation, Immune Function, Infection Risk, Autoimmune

Your immune system deploys chemokine receptors like radio antennas — they pick up distress signals from inflamed tissue and direct immune cells to the scene. CCR5 (C-C chemokine receptor 5)(https://pubmed.ncbi.nlm.nih.gov/21133894/) sits at the intersection of infectious immunity and vascular inflammation. The...

rs1805097 Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach extreme old age — mediates longevity via reduced insulin/IGF-1 signaling, but its protective effect reverses sharply with obesity

Chromosome 13 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, Insulin, Growth Factors, Diabetes, Insulin Resistance

The insulin/IGF-1 signaling (IIS) pathway is the most conserved longevity pathway across all studied species. Reduce it in yeast, worms, flies, or mice, and lifespan extends. IRS2 — insulin receptor substrate 2 — is the critical intracellular docking protein that receives the IGF-1 receptor's signal and amplifies it...

rs193922339 Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss of function; heterozygous carriers have a raised glucose set point producing lifelong mild fasting hyperglycemia consistent with maturity-onset diabetes of the young type 2 (MODY2/GCK-MODY)

Chromosome 7 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags MODY, Diabetes, Fasting Glucose, Pancreatic Beta Cell, Metabolic, Genetic Counseling

Every pancreatic beta cell contains a molecular glucose sensor — the enzyme glucokinase(https://www.uniprot.org/uniprotkb/P35557/entry). This variant, GCK p.Phe316Tyr (rs193922339), substitutes phenylalanine with tyrosine at position 316 in the large catalytic subdomain of the protein. The result is reduced...

rs193922680 Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects through impaired sarcomeric force generation.

Chromosome 15 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Congenital, Carrier Status, Muscle

Cardiac alpha-actin is the molecular backbone of every heartbeat. Encoded by the ACTC1 gene, it polymerizes into thin filaments that interdigitate with myosin heavy chains to generate the force your heart needs to eject blood. The p.Glu101Lys variant — a single amino acid substitution at position 101 of this actin —...

rs2036527 Cis-regulatory enhancer variant at 15q25.1 that drives CHRNA3 and CHRNA5 expression via chromatin looping, independently associated with nicotine dependence and lung cancer risk — particularly informative in non-European populations

Chromosome 15 Risk Allele A Category Mood & Behavior Tags Mental Health, Addiction, Smoking, Lung Cancer, Neurotransmitters

Most genetic research on nicotine dependence has focused on a single amino acid change in the CHRNA5 gene (rs16969968, D398N), but the 15q25.1 locus harbors a second distinct mechanism: a cis-regulatory variant that controls how much CHRNA3 and CHRNA5 are made in the first place. rs2036527 sits approximately 511...

rs20455 Missense variant in kinesin family member 6; the Arg allele was associated with elevated coronary heart disease risk and with substantially greater benefit from statin therapy in the CARE, WOSCOPS, PROSPER, and PROVE IT-TIMI 22 trials, though a large meta-analysis of 19 case-control studies found no independent CAD risk association

Chromosome 6 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Tags Heart Disease, Cardiovascular, Statins, Pharmacogenomics, Atherosclerosis, Cholesterol

Inside the nucleus and cytoplasm of every cell, molecular motors called kinesins ferry cargo along microtubule tracks. KIF6 (kinesin family member 6) is one of these motors, and while its precise cellular role is still being worked out, it has attracted intense scrutiny for one reason: a common amino acid variant at...

rs2066847 The most important Crohn's disease risk variant worldwide — a frameshift insertion in NOD2 that abolishes bacterial muramyl dipeptide sensing; homozygotes face 20–40x elevated Crohn's risk

Chromosome 16 Risk Allele I Category IBD & Mucosal Immunity Tags Crohn's Disease, IBD, Bacterial Sensing, Innate Immunity, Gut Barrier, Inflammatory Bowel Disease

Every bacterium carries muramyl dipeptide (MDP) in its cell wall — a molecular signature that the NOD2 protein uses as an early warning alarm inside intestinal cells. When bacteria breach the gut epithelium, NOD2 binds MDP(https://pubmed.ncbi.nlm.nih.gov/11385576/) and triggers a tightly controlled inflammatory...

rs2241423 MAPK signaling variant in MAP2K5 associated with BMI through altered adipogenesis via the MEK5-ERK5 pathway

Chromosome 15 Risk Allele G Category Appetite & Obesity Tags Fat Metabolism, Obesity, Diet

MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5, also known as MEK5) encodes a critical signaling kinase in the MAPK signaling cascade(). MEK5 is the sole known activator of ERK5(), making this pathway a key gatekeeper of fat cell formation. The rs2241423 variant sits within the last intron of MAP2K5 on chromosome...

rs2297440 Intronic variant in RTEL1 (Regulator of Telomere Elongation Helicase 1) on chromosome 20q13.33; the T allele is associated with increased glioma risk and reduced telomere maintenance capacity, linking impaired telomere biology to genomic instability and inflammatory aging

Chromosome 20 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Tags Telomere Biology, DNA Repair, Cancer Risk, Aging, Inflammaging, Immune Function

At the tips of every chromosome sit telomeres — repetitive DNA sequences that protect the genome from erosion with each cell division. Maintaining these caps requires more than the enzyme telomerase; it requires a specialized helicase called RTEL1(https://www.ncbi.nlm.nih.gov/gene/51750). RTEL1 dismantles T-loops...