|(C;C)||0||common in clinvar|
[PMID 19956930] Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene
[PMID 18443036] Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations.
[PMID 19042922] Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene.
[PMID 22894972] Collagen genes and exercise-associated muscle cramping
[PMID 24085259] A Polymorphism Within a Functional Region of the COL5A1 Gene is Independently Associated With Ultra-Endurance Running Performance and Joint Range of Motion
[PMID 23347277] Polymorphisms within the COL5A1 3'-UTR that alters mRNA structure and the MIR608 gene are associated with Achilles tendinopathy.
[PMID 24755981] A Polymorphism in a Functional Region of the COL5A1 Gene: Association With Ultraendurance-Running Performance and Joint Range of Motion
|CLNDBN||Ehlers-Danlos syndrome, type 7A|
[PMID 29143592] COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby.
[PMID 29632650] Association between polymorphism rs12722 in COL5A1 and musculoskeletal soft tissue injuries: a systematic review and meta-analysis.
[PMID 29799806] Variations of Collagen-Encoding Genes are Associated with Exercise-Induced Muscle Damage.
[PMID 31791263] COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes.