COL5A1 rs113488022: What Your Genotype Means
The rs113488022 variant is a specific genetic change located within the COL5A1 gene. It has been studied for its potential associations with joint hypermobility and susceptibility to hypermobile Ehlers-Danlos Syndrome (hEDS).
What each genotype means
Typical connective tissue profile
This genotype represents the most common genetic sequence observed in the general population for this location in the COL5A1 gene. Research does not currently associate this specific combination with an increased risk for joint hypermobility or Ehlers-Danlos syndrome. Please consult with a healthcare professional if you have concerns regarding joint health or connective tissue symptoms.
This is the most common genotype found across all major global populations.
Potential connective tissue variation
Carrying one copy of this variant means you have a genetic difference that has been studied for its potential association with joint hypermobility and connective tissue characteristics. Current evidence is limited and does not confirm a direct diagnostic link to hypermobile Ehlers-Danlos syndrome. You should discuss any physical symptoms, such as joint pain or skin elasticity, with a medical specialist.
This genotype is considered rare, with specific frequency data varying significantly by ancestral background.
Increased connective tissue variation
This genotype indicates you carry two copies of the variant associated in some studies with altered extracellular matrix composition and joint hypermobility. While this variant is noted in research regarding connective tissue susceptibility, it is not a definitive diagnostic marker for Ehlers-Danlos syndrome. Please discuss your clinical history and any symptoms with a genetic counselor or physician.
This genotype is very rare and is observed at low frequencies in global population databases.
Understanding the Variant and Its Location
The rs113488022 variant is a single nucleotide polymorphism (SNP) situated within the COL5A1 gene. In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. The COL5A1 gene provides instructions for making one component of type V collagen, a complex molecule that provides structure and strength to connective tissues throughout the body. Because this variant is located in a gene responsible for structural proteins, researchers investigate whether such changes might alter the production or function of collagen. It is important to note that the presence of a variant does not automatically imply a clinical condition; rather, it serves as a marker that scientists study to understand how genetic diversity influences physical traits and disease susceptibility across different populations.
The Role of the COL5A1 Gene
The COL5A1 gene is essential for the assembly of type V collagen, which acts as a scaffold for other collagen types in the body. Connective tissues, including skin, tendons, ligaments, and blood vessels, rely on this structural integrity to function correctly. Mutations in COL5A1 are well-documented as the primary cause of classical Ehlers-Danlos syndrome (cEDS), a condition characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. While classical EDS has a clear genetic basis, the genetic architecture of hypermobile Ehlers-Danlos syndrome (hEDS) is more complex and remains a subject of active research. Scientists are currently working to determine if specific variants, such as rs113488022, contribute to the spectrum of hypermobility-related traits or if they represent benign variation within the human genome.
Research Associations and Evidence Strength
Current research into rs113488022 suggests a moderate association with joint hypermobility and potential links to hypermobile Ehlers-Danlos syndrome. However, the evidence is not definitive. Hypermobile EDS is the most common form of the syndrome, yet it lacks a single, universally identified genetic cause, leading researchers to explore polygenic models where multiple variants may contribute to the phenotype. Studies often use whole-exome sequencing to identify rare variants in patients with complex, undiagnosed connective tissue symptoms. Because the clinical presentation of hypermobility can vary widely even among individuals with the same genetic profile, the strength of the association for any single variant like rs113488022 is considered moderate. Further large-scale studies are required to clarify the functional impact of this specific variant and its role in clinical outcomes.
Population Frequency and Interpretation
The rs113488022 variant is classified as rare in the general population. Genetic databases like gnomAD provide insights into how frequently specific alleles appear across different ancestral groups. When a variant is rare, it can be challenging to establish statistically significant links to health conditions because the sample size of individuals carrying the variant is limited. Consequently, the presence of this variant in an individual's genetic report should be interpreted with caution. It is not a diagnostic tool for Ehlers-Danlos syndrome, which is primarily a clinical diagnosis made by healthcare professionals based on physical examination and medical history. Readers should avoid using this information to self-diagnose and are encouraged to discuss any concerns regarding joint health or connective tissue symptoms with a qualified medical provider or genetic counselor.
How common is this variant?
The rs113488022 variant is documented as rare across global populations, with its specific frequency varying by ancestry.
Frequently asked questions
Does having the rs113488022 variant mean I have Ehlers-Danlos syndrome?
No. Ehlers-Danlos syndrome is a clinical diagnosis made by a doctor based on physical symptoms and medical history. A genetic variant alone is not sufficient for a diagnosis.
What should I do if I have this variant and joint pain?
You should consult with a healthcare professional, such as a rheumatologist or a genetic counselor. They can evaluate your symptoms and determine if further clinical testing is appropriate.
Is there a cure for variants in the COL5A1 gene?
Genetic variants are part of your DNA and cannot be 'cured' or removed. Management of connective tissue conditions focuses on physical therapy, pain management, and monitoring by specialists.
Why is this variant considered 'rare'?
A variant is considered rare if it is found in a very small percentage of the general population. Rare variants are often the subject of research to see if they contribute to specific health traits.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Variant in the collagen type V alpha 1 chain gene associated with range of motion, muscle-tendon stiffness, and soft-tissue injury susceptibility.
A synonymous coding variant in the collagen alpha-1(V) chain gene that associates with sit-and-reach flexibility, running economy, and tendon injury risk.
Common regulatory intronic variant in COL5A1 significantly associated with central corneal thickness variation and susceptibility to keratoconus.
COL5A1 locus variant robustly associated across multiple genome-wide scans with decreased central corneal thickness and corneal biomechanical risk.
Polymorphism located within the 3' untranslated region of COL5A1 associated with musculoskeletal soft tissue properties, Achilles tendinopathy, and cruciate ligament injury risk.
This variant in the collagen type V alpha 1 chain gene is associated with structural skin integrity and connective tissue properties.