rs243865
| Orientation | plus |
| Stabilized | plus |
| Make rs243865(C;C) |
| Make rs243865(C;T) |
| Make rs243865(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 55477894 |
| Gene | MMP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs243865 |
| dbSNP (classic) | rs243865 |
| ClinGen | rs243865 |
| ebi | rs243865 |
| HLI | rs243865 |
| Exac | rs243865 |
| Gnomad | rs243865 |
| Varsome | rs243865 |
| LitVar | rs243865 |
| Map | rs243865 |
| PheGenI | rs243865 |
| Biobank | rs243865 |
| 1000 genomes | rs243865 |
| hgdp | rs243865 |
| ensembl | rs243865 |
| geneview | rs243865 |
| scholar | rs243865 |
| rs243865 | |
| pharmgkb | rs243865 |
| gwascentral | rs243865 |
| openSNP | rs243865 |
| 23andMe | rs243865 |
| SNPshot | rs243865 |
| SNPdbe | rs243865 |
| MSV3d | rs243865 |
| GWAS Ctlg | rs243865 |
| GMAF | 0.1566 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19454611
] Matrix metalloproteinase-2 polymorphisms and breast cancer susceptibility
[PMID 20808730] Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas
[PMID 21228795] Impact of LIMK1, MMP2 and TNF-? variations for intracranial aneurysm in Japanese population
[PMID 21612407] Lymph Node Metastasis of Gastric Cancer Is Associated with the Interaction Between Poly (ADP-Ribose) Polymerase 1 and Matrix Metallopeptidase 2
[PMID 22621753] Higher risk of matrix metalloproteinase (MMP-2, 7, 9) and tissue inhibitor of metalloproteinase (TIMP-2) genetic variants to gallbladder cancer
[PMID 21307882] Common matrix metalloproteinase 2 gene haplotypes may modulate left ventricular remodelling in hypertensive patients
[PMID 16356191] Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study.
[PMID 17958893] Functional polymorphisms in the promoter regions of MMP2 and MMP3 are not associated with melanoma progression.
[PMID 18205826] The MMP2 rs243865-T allele is not a major genetic factor for rheumatoid arthritis in the French Caucasian population.
[PMID 18784838] Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development.
[PMID 18787887] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
[PMID 18802702] Association of (-1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms).
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19822020] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
[PMID 20157405] Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.
[PMID 20222942] Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21161369] Current evidence on the relationship between four polymorphisms in the matrix metalloproteinases (MMP) gene and breast cancer risk: a meta-analysis.
[PMID 21396799] Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23257253] Expression of matrix metalloproteinase-2 and matrix metalloproteinase-9 in recurrent chronic rhinosinusitis with nasal polyposis
[PMID 23819551] Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility
[PMID 22710194] MMP13 polymorphism decreases risk for dental caries.
[PMID 23242659] Effect of metabolic syndrome risk factors and MMP-2 genetic variations on circulating MMP-2 levels in childhood obesity.
[PMID 26754027] Genetic polymorphisms in MMP 2, 3 and 9 genes and the susceptibility of osteosarcoma in a Chinese Han population.
[PMID 27759651] MMP-2 gene polymorphisms are associated with type A aortic dissection and aortic diameters in patients.
[PMID 28467961] Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.
| ClinVar | |
|---|---|
| Risk | rs243865(T;T) |
| Alt | rs243865(T;T) |
| Reference | rs243865(C;C) |
| Significance | Other |
| Disease | Lip and oral cavity carcinoma |
| Variation | info |
| Gene | MMP2 |
| CLNDBN | Lip and oral cavity carcinoma |
| Reversed | 0 |
| HGVS | NC_000016.9:g.55511806C>T |
| CLNSRC | |
| CLNACC | RCV000493884.1, |
[PMID 28881764] Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.
[PMID 29334797] Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis.
[PMID 29381911] Risk of macular degeneration affected by polymorphisms in Matrix metalloproteinase-2: A case-control study in Chinese Han population.
[PMID 28750369] Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome.
[PMID 33351325] [Gene-environment interactions between polymorphic loci of MMPs and obesity in essential hypertension in women.]
