rs12722
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs12722(C;T) |
| Make rs12722(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 134842570 |
| Gene | COL5A1, LOC101448202 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12722 |
| dbSNP (classic) | rs12722 |
| ClinGen | rs12722 |
| ebi | rs12722 |
| HLI | rs12722 |
| Exac | rs12722 |
| Gnomad | rs12722 |
| Varsome | rs12722 |
| LitVar | rs12722 |
| Map | rs12722 |
| PheGenI | rs12722 |
| Biobank | rs12722 |
| 1000 genomes | rs12722 |
| hgdp | rs12722 |
| ensembl | rs12722 |
| geneview | rs12722 |
| scholar | rs12722 |
| rs12722 | |
| pharmgkb | rs12722 |
| gwascentral | rs12722 |
| openSNP | rs12722 |
| 23andMe | rs12722 |
| SNPshot | rs12722 |
| SNPdbe | rs12722 |
| MSV3d | rs12722 |
| GWAS Ctlg | rs12722 |
| GMAF | 0.3714 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[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
| ClinVar | |
|---|---|
| Risk | rs12722(T;T) |
| Alt | rs12722(T;T) |
| Reference | Rs12722(C;C) |
| Significance | Non-pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | Ehlers-Danlos syndrome, type 7A |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137734416C>T |
| CLNSRC | |
| CLNACC | RCV000292334.1, |
[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.
