Have questions? Visit https://www.reddit.com/r/SNPedia

rs12722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs12722(C;T)
Make rs12722(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position134842570
GeneCOL5A1, LOC101448202
is asnp
is mentioned by
dbSNPrs12722
dbSNP (old)rs12722
ClinGenrs12722
ebirs12722
HLIrs12722
Exacrs12722
Varsomers12722
Maprs12722
PheGenIrs12722
Biobankrs12722
1000 genomesrs12722
hgdprs12722
ensemblrs12722
gopubmedrs12722
geneviewrs12722
scholarrs12722
googlers12722
pharmgkbrs12722
gwascentralrs12722
openSNPrs12722
23andMers12722
23andMe allrs12722
SNP Nexus

SNPshotrs12722
SNPdbers12722
MSV3drs12722
GWAS Ctlgrs12722
GMAF0.3714
Max Magnitude0
? (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,