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, |