chr11:102736642:T>G Detail (hg19) (MMP12)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:102,736,642-102,736,642 |
| hg38 | chr11:102,865,911-102,865,911 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002426.5:c.1068A>C | NP_002417.2:p.Gln356His |
| Ensemble | ENST00000571244.3:c.1068A>C | ENST00000571244.3:p.Gln356His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
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 |
| 0.002 | Carcinoma of lung | We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... | BeFree | 16311244 | Detail |
| 0.001 | Carcinoma of lung | We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... | BeFree | 16311244 | Detail |
| 0.016 | Malignant neoplasm of lung | We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs... | BeFree | 16311244 | Detail |
| 0.025 | Chronic Obstructive Airway Disease | To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G--&g... | BeFree | 20160424 | Detail |
| <0.001 | Aggressive periodontitis, generalized | MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. | BeFree | 18052707 | Detail |
| <0.001 | Aggressive periodontitis, generalized | MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. | BeFree | 18052707 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... | DisGeNET | Detail |
| We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... | DisGeNET | Detail |
| We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... | DisGeNET | Detail |
| We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-11... | DisGeNET | Detail |
| To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G-->GG, MMP-9 -1562C--... | DisGeNET | Detail |
| MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. | DisGeNET | Detail |
| MMP-2 -735C/T and MMP-12 357Asn/Ser polymorphisms are not related to GAgP. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr11:102,736,642-102,736,642
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8558
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 119448
- Allele Counts in All Race (ExAC)
- 30
- Heterozygous Counts in All Race (ExAC)
- 26
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 2.5115531444645366E-4
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