chr11:102745791:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:102,745,791-102,745,791 |
| hg38 | chr11:102,875,061-102,875,061 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.023 | |
| 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 |
|---|---|---|---|---|---|
| 0.009 | 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 |
| 0.129 | 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 |
| 0.006 | 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 |
| <0.001 | 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 | congestive heart failure | For MMP12 -82A>G (rs2276109), no pharmacogenetic effect was found for the pri... | BeFree | 21887284 | Detail |
| <0.001 | pulmonary fibrosis | The MMP-12 rs2276109 gene polymorphism may contribute to susceptibility to SSc, ... | BeFree | 20595276 | Detail |
| 0.006 | asthma | The minor allele of a SNP in MMP12 (rs2276109) is associated with a positive eff... | BeFree | 20018959 | Detail |
| 0.003 | Aneurysm | Analysis of the five MMP genes identified modest trends in allele and genotype f... | BeFree | 20827277 | Detail |
| 0.004 | Aneurysm | Analysis of the five MMP genes identified modest trends in allele and genotype f... | BeFree | 20827277 | Detail |
| <0.001 | Heart failure | For MMP12 -82A>G (rs2276109), no pharmacogenetic effect was found for the pri... | BeFree | 21887284 | Detail |
| 0.021 | asthma | The minor allele (G) of a functional variant in the promoter region of MMP12 (rs... | BeFree | 20018959 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
| For MMP12 -82A>G (rs2276109), no pharmacogenetic effect was found for the primary outcome, althou... | DisGeNET | Detail |
| The MMP-12 rs2276109 gene polymorphism may contribute to susceptibility to SSc, and in particular to... | DisGeNET | Detail |
| The minor allele of a SNP in MMP12 (rs2276109) is associated with a positive effect on lung function... | DisGeNET | Detail |
| Analysis of the five MMP genes identified modest trends in allele and genotype frequencies for MMP-3... | DisGeNET | Detail |
| Analysis of the five MMP genes identified modest trends in allele and genotype frequencies for MMP-3... | DisGeNET | Detail |
| For MMP12 -82A>G (rs2276109), no pharmacogenetic effect was found for the primary outcome, althou... | DisGeNET | Detail |
| The minor allele (G) of a functional variant in the promoter region of MMP12 (rs2276109 [-82A-->G... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2276109 dbSNP
- Genome
- hg19
- Position
- chr11:102,745,791-102,745,791
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs2276109
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0235
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 394
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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