rs2287074
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2287074(A;A) |
| Make rs2287074(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 55493201 |
| Gene | MMP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2287074 |
| dbSNP (classic) | rs2287074 |
| ClinGen | rs2287074 |
| ebi | rs2287074 |
| HLI | rs2287074 |
| Exac | rs2287074 |
| Gnomad | rs2287074 |
| Varsome | rs2287074 |
| LitVar | rs2287074 |
| Map | rs2287074 |
| PheGenI | rs2287074 |
| Biobank | rs2287074 |
| 1000 genomes | rs2287074 |
| hgdp | rs2287074 |
| ensembl | rs2287074 |
| geneview | rs2287074 |
| scholar | rs2287074 |
| rs2287074 | |
| pharmgkb | rs2287074 |
| gwascentral | rs2287074 |
| openSNP | rs2287074 |
| 23andMe | rs2287074 |
| SNPshot | rs2287074 |
| SNPdbe | rs2287074 |
| MSV3d | rs2287074 |
| GWAS Ctlg | rs2287074 |
| GMAF | 0.3494 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18560213] association of the MMP-2 gene with the development of lacunar stroke. rs1030868, rs2241145, rs2287074, rs2287076, rs7201 showed a significant association with small vessel infarcts (p < 0.05) and rs7201:g.C was identified as an independent risk factor by multivariable logistic regression analysis
[PMID 18359774] Estrogen receptor alpha and matrix metalloproteinase 2 polymorphisms and age-related maculopathy in older women.
[PMID 18787887
] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
[PMID 19454611
] Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility.
[PMID 20157405
] Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.
| ClinVar | |
|---|---|
| Risk | rs2287074(A;A) rs2287074(C;C) |
| Alt | rs2287074(A;A) rs2287074(C;C) |
| Reference | Rs2287074(G;G) |
| Significance | Non-pathogenic |
| Disease | Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders |
| Variation | info |
| Gene | MMP2 |
| CLNDBN | Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders |
| Reversed | 0 |
| HGVS | NC_000016.9:g.55527113G>A |
| CLNSRC | |
| CLNACC | RCV000394276.1, |
