chr14:52300623:G>A Detail (hg38) (PTGER2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:52,767,341-52,767,341 View the variant detail on this assembly version. |
| hg38 | chr14:52,300,623-52,300,623 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.247 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
risk factor
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
risk factor
|
2004-12-15 | no assertion criteria provided | Asthma, aspirin-induced, susceptibility to |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
| <0.001 | myocardial infarction | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
| 0.130 | Cardiovascular Diseases | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000014.9:g.52300623G>A AND Asthma, aspirin-induced, susceptibility to | ClinVar | Detail |
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs708494 dbSNP
- Genome
- hg38
- Position
- chr14:52,300,623-52,300,623
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs708494
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.247
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4139
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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