rs2250889
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | 1.69x higher risk for lung cancer |
| (C;G) | 1.46x higher risk for lung cancer | |
| (G;G) | 0 | normal risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 46013767 |
| Gene | MMP9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2250889 |
| dbSNP (classic) | rs2250889 |
| ClinGen | rs2250889 |
| ebi | rs2250889 |
| HLI | rs2250889 |
| Exac | rs2250889 |
| Gnomad | rs2250889 |
| Varsome | rs2250889 |
| LitVar | rs2250889 |
| Map | rs2250889 |
| PheGenI | rs2250889 |
| Biobank | rs2250889 |
| 1000 genomes | rs2250889 |
| hgdp | rs2250889 |
| ensembl | rs2250889 |
| geneview | rs2250889 |
| scholar | rs2250889 |
| rs2250889 | |
| pharmgkb | rs2250889 |
| gwascentral | rs2250889 |
| openSNP | rs2250889 |
| 23andMe | rs2250889 |
| SNPshot | rs2250889 |
| SNPdbe | rs2250889 |
| MSV3d | rs2250889 |
| GWAS Ctlg | rs2250889 |
| GMAF | 0.1543 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2250889, a SNP also known as P574R, is located in the MMP9 gene.
In a study of 744 Chinese patients with incident lung cancer rs2250889(C;G) heterozygotes and rs2250889(C;C) homozygotes had 1.46-fold (CI: 0.94-2.26) and 1.69-fold elevated risk (CI: 1.10-2.60) for lung cancer, respectively, compared with the (G;G) genotype. There was an additive effect of having additional MMP9 risk alleles.[PMID 16061858]
[PMID 19633731
] Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China
[PMID 20144500] Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women
[PMID 22113040] [Study on association between single nucleotide polymorphisms of MMP7, MMP8, MMP9 genes and development of gastric cancer and lymph node metastasis]
[PMID 22621753] Higher risk of matrix metalloproteinase (MMP-2, 7, 9) and tissue inhibitor of metalloproteinase (TIMP-2) genetic variants to gallbladder cancer
[PMID 22664146] Association of matrix metalloproteinases (MMP2, MMP7 and MMP9) genetic variants with left ventricular dysfunction in coronary artery disease patients
[PMID 15748780] Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease.
[PMID 17346338] Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18512818] Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis.
[PMID 19064570] Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.
[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.
[PMID 23955812] Functional polymorphisms of matrix metalloproteinase-9 and survival in patients with locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy
[PMID 25711032] [Association of matrix metalloproteinases' polymorphisms of MMP3 and MMP9 with development of genital endometriosis]
| ClinVar | |
|---|---|
| Risk | Rs2250889(C;C) rs2250889(T;T) |
| Alt | Rs2250889(C;C) rs2250889(T;T) |
| Reference | Rs2250889(G;G) |
| Significance | Non-pathogenic |
| Disease | Metaphyseal anadysplasia not specified |
| Variation | info |
| Gene | MMP9 |
| CLNDBN | Metaphyseal anadysplasia not specified |
| Reversed | 0 |
| HGVS | NC_000020.10:g.44642406G>C |
| CLNSRC | |
| CLNACC | RCV000270314.1, RCV000381191.1, |
