rs20544
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs20544(C;T) |
| Make rs20544(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 46016371 |
| Gene | MMP9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs20544 |
| dbSNP (classic) | rs20544 |
| ClinGen | rs20544 |
| ebi | rs20544 |
| HLI | rs20544 |
| Exac | rs20544 |
| Gnomad | rs20544 |
| Varsome | rs20544 |
| LitVar | rs20544 |
| Map | rs20544 |
| PheGenI | rs20544 |
| Biobank | rs20544 |
| 1000 genomes | rs20544 |
| hgdp | rs20544 |
| ensembl | rs20544 |
| geneview | rs20544 |
| scholar | rs20544 |
| rs20544 | |
| pharmgkb | rs20544 |
| gwascentral | rs20544 |
| openSNP | rs20544 |
| 23andMe | rs20544 |
| SNPshot | rs20544 |
| SNPdbe | rs20544 |
| MSV3d | rs20544 |
| GWAS Ctlg | rs20544 |
| GMAF | 0.2805 |
| Max Magnitude | 0 |
[PMID 23257658] A functional polymorphism at miR-491-5p binding site in the 3'-UTR of MMP-9 gene confers increased risk for atherosclerotic cerebral infarction in a Chinese population
[PMID 20078883
] Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.
| ClinVar | |
|---|---|
| Risk | rs20544(T;T) |
| Alt | rs20544(T;T) |
| Reference | Rs20544(C;C) |
| Significance | Non-pathogenic |
| Disease | Metaphyseal anadysplasia |
| Variation | info |
| Gene | MMP9 |
| CLNDBN | Metaphyseal anadysplasia |
| Reversed | 0 |
| HGVS | NC_000020.10:g.44645010C>T |
| CLNSRC | |
| CLNACC | RCV000286736.1, |
[PMID 33345667] A polymorphism in the 3'-untranslated region of the matrix metallopeptidase 9 gene is associated with susceptibility to idiopathic calcium nephrolithiasis in the Chinese population.
