chr11:102826539:C>T Detail (hg19) (MMP13, LOC126861318)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:102,826,539-102,826,539 |
| hg38 | chr11:102,955,810-102,955,810 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:0.458 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <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 |
| <0.001 | 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 |
| <0.001 | 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 |
| <0.001 | Carcinoma of lung | Our findings suggest significant association for MMP-13 rs2252070 A>G to incr... | BeFree | 25023404 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000011.10:g.102955810C>T AND not provided | ClinVar | 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 |
| 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 |
| No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (... | DisGeNET | Detail |
| Our findings suggest significant association for MMP-13 rs2252070 A>G to increased susceptibility... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2252070 dbSNP
- Genome
- hg19
- Position
- chr11:102,826,539-102,826,539
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs2252070
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4579
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7673
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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