chr11:102670497:C> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:102,670,497-102,670,497
hg38 chr11:102,799,766-102,799,766 

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.327
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 primary angle-closure glaucoma Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorp... BeFree 23441116 Detail
<0.001 Glaucoma, Primary Open Angle Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorp... BeFree 23441116 Detail
0.001 Glaucoma, Primary Open Angle Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorp... BeFree 23441116 Detail
<0.001 Glaucoma, Open-Angle Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750)... BeFree 20808730 Detail
0.009 Malignant neoplasm of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 Hernia The MMP1 rs1799750 2G allele is associated with increased low back pain, sciatic... BeFree 23370084 Detail
0.129 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.002 Carcinoma of bladder The majority of the research described in the present mini-review proves that th... BeFree 24635493 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.006 Malignant neoplasm of urinary bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
<0.001 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
0.002 Carcinoma of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
<0.001 Malignant neoplasm of urinary bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
0.001 Carcinoma of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
0.016 Malignant neoplasm of lung We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... BeFree 16311244 Detail
<0.001 Malignant neoplasm of urinary bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
0.013 Malignant neoplasm of urinary bladder The majority of the research described in the present mini-review proves that th... BeFree 24635493 Detail
0.083 Osteoarthritis, Knee Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee oste... BeFree 24838892 Detail
<0.001 Carcinoma of bladder To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 ... BeFree 23819551 Detail
<0.001 Pancreatitis, Chronic Influence of matrix metalloproteinase-1 gene -1607 (1G/2G) (rs1799750) promoter ... BeFree 23644943 Detail
0.001 aortic aneurysm No associations with AAA were identified for other SNPs assessed in this study i... BeFree 23813847 Detail
<0.001 Low Back Pain The MMP1 rs1799750 2G allele is associated with increased low back pain, sciatic... BeFree 23370084 Detail
Annotation

Annotations

DescrptionSourceLinks
Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorphisms might be of va... DisGeNET Detail
Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorphisms might be of va... DisGeNET Detail
Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorphisms might be of va... DisGeNET Detail
Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
The MMP1 rs1799750 2G allele is associated with increased low back pain, sciatica, and disability af... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
The majority of the research described in the present mini-review proves that the genetic polymorphi... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
The majority of the research described in the present mini-review proves that the genetic polymorphi... DisGeNET Detail
Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Gr... DisGeNET Detail
To elucidate genetic polymorphisms of the matrix metalloproteinases (MMPs) MMP1 (rs1799750), MMP2 (r... DisGeNET Detail
Influence of matrix metalloproteinase-1 gene -1607 (1G/2G) (rs1799750) promoter polymorphism on circ... DisGeNET Detail
No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... DisGeNET Detail
The MMP1 rs1799750 2G allele is associated with increased low back pain, sciatica, and disability af... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1799750 dbSNP
Genome
hg19
Position
chr11:102,670,497-102,670,497
Variant Type
snv
Reference Allele
C
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1799750
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3266
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5473
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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