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rs2276109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs2276109(A;G)
Make rs2276109(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position102875061
GeneMMP12
is asnp
is mentioned by
dbSNPrs2276109
ebirs2276109
HLIrs2276109
Exacrs2276109
Varsomers2276109
Maprs2276109
PheGenIrs2276109
hapmaprs2276109
1000 genomesrs2276109
hgdprs2276109
ensemblrs2276109
gopubmedrs2276109
geneviewrs2276109
scholarrs2276109
googlers2276109
pharmgkbrs2276109
gwascentralrs2276109
openSNPrs2276109
23andMers2276109
23andMe allrs2276109
SNP Nexus

SNPshotrs2276109
SNPdbers2276109
MSV3drs2276109
GWAS Ctlgrs2276109
GMAF0.073
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 20018959OA-icon.png] MMP12, Lung Function, and COPD in High-Risk Populations


[PMID 20078883OA-icon.png] Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population


[PMID 20595276] Association of a Functional Polymorphism in the Matrix Metalloproteinase-12 Promoter Region with Systemic Sclerosis in an Italian Population

OMIM601046
DescMATRIX METALLOPROTEINASE 12; MMP12
Variant
Relatedalso


OMIM606963
Desc
Variant
Relatedalso


[PMID 21410539] Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture


[PMID 20827277OA-icon.png] Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease


[PMID 21444408] Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture


[PMID 16311244] Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer.


[PMID 19321798OA-icon.png] Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis.


[PMID 19664242OA-icon.png] Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection.


GET Evidence
rs2276109
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.03125
summary



[PMID 23813847] The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis


[PMID 23819551] Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility


[PMID 23898086] Gene polymorphism of matrix metalloproteinase-12 and -13 and association with colorectal cancer in Swedish patients


[PMID 25711032] [Association of matrix metalloproteinases' polymorphisms of MMP3 and MMP9 with development of genital endometriosis]


[PMID 26379878] The association between MMP-12 82 A/G polymorphism and susceptibility to various malignant tumors: a meta-analysis