chr20:46007337:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:44,635,976-44,635,976 View the variant detail on this assembly version. |
| hg38 | chr20:46,007,337-46,007,337 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.166 | |
| 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 | 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 |
| <0.001 | Malignant neoplasm of urinary 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 | 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 |
| <0.001 | 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 |
| 0.201 | Aortic Aneurysm, Thoracic | Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... | BeFree | 25120286 | Detail |
| 0.201 | Aortic Aneurysm, Thoracic | Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... | BeFree | 25120286 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility f... | BeFree | 25120286 | Detail |
| 0.008 | Malignant neoplasm of urinary bladder | The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs39... | BeFree | 23819551 | Detail |
| 0.004 | Carcinoma of bladder | The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs39... | BeFree | 23819551 | Detail |
| 0.005 | Carcinoma of bladder | The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs39... | BeFree | 23819551 | Detail |
| 0.012 | Malignant neoplasm of urinary bladder | The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs39... | BeFree | 23819551 | Detail |
| <0.001 | malaria | Matrix metalloproteinase-9 polymorphism 1562 C > T (rs3918242) associated wit... | BeFree | 26013370 | Detail |
| 0.010 | Cardiovascular Diseases | In addition, MMP9 rs3918242 T allele was associated with higher LDL-cholesterol ... | BeFree | 24291031 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
| Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... | DisGeNET | Detail |
| Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... | DisGeNET | Detail |
| Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR ... | DisGeNET | Detail |
| The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs3918242) allele T was ... | DisGeNET | Detail |
| The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs3918242) allele T was ... | DisGeNET | Detail |
| The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs3918242) allele T was ... | DisGeNET | Detail |
| The combined genotype MMP2 -1306C/T (rs243865) allele T with MMP9 -1562C/T (rs3918242) allele T was ... | DisGeNET | Detail |
| Matrix metalloproteinase-9 polymorphism 1562 C > T (rs3918242) associated with protection against... | DisGeNET | Detail |
| In addition, MMP9 rs3918242 T allele was associated with higher LDL-cholesterol levels, suggesting a... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3918242 dbSNP
- Genome
- hg38
- Position
- chr20:46,007,337-46,007,337
- 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))
- rs3918242
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1656
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2776
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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