rs591058
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | higher risk for Achilles tendinopathy? |
| (T;T) | 0 | common in clinvar |
| Make rs591058(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 102840607 |
| Gene | MMP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs591058 |
| dbSNP (classic) | rs591058 |
| ClinGen | rs591058 |
| ebi | rs591058 |
| HLI | rs591058 |
| Exac | rs591058 |
| Gnomad | rs591058 |
| Varsome | rs591058 |
| LitVar | rs591058 |
| Map | rs591058 |
| PheGenI | rs591058 |
| Biobank | rs591058 |
| 1000 genomes | rs591058 |
| hgdp | rs591058 |
| ensembl | rs591058 |
| geneview | rs591058 |
| scholar | rs591058 |
| rs591058 | |
| pharmgkb | rs591058 |
| gwascentral | rs591058 |
| openSNP | rs591058 |
| 23andMe | rs591058 |
| SNPshot | rs591058 |
| SNPdbe | rs591058 |
| MSV3d | rs591058 |
| GWAS Ctlg | rs591058 |
| GMAF | 0.3756 |
| Max Magnitude | 1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs591058 is a SNP in the matrix metallopeptidase 3 MMP3 gene on ch 11.
[PMID 19042922] A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs591058, the (C;C) genotype had an odds ratio of 2.3 (CI: 1.1 to 4.50, p = 0.023).
| ClinVar | |
|---|---|
| Risk | Rs591058(C;C) |
| Alt | Rs591058(C;C) |
| Reference | Rs591058(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | MMP3 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000011.9:g.102711338T>C |
| CLNSRC | |
| CLNACC | RCV000454459.1, |
[PMID 30755371] Are MMP3, MMP8 and TIMP2 gene variants associated with anterior cruciate ligament rupture susceptibility?
[PMID 32607795] Association of the matrix metalloproteinase 3 (MMP3) single nucleotide polymorphisms with tendinopathies: case-control study in high-level athletes.
