chr1:186641058:G>C Detail (hg19) (PTGS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:186,641,058-186,641,058 |
| hg38 | chr1:186,671,926-186,671,926 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000963.3:c.*2427C>G | |
| Ensemble | ENST00000680451.1:c.*2427C>G | |
| ENST00000367468.10:c.*2427C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs70... | BeFree | 16879213 | Detail |
| 0.001 | esophagitis | For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase i... | BeFree | 20811626 | 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 |
|---|---|---|
| We evaluated two PTGS2 (rs20417, rs689470), and three PTGER2 (rs708494/uS5, rs708495/uS7, and chr14:... | DisGeNET | Detail |
| For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including th... | 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 |
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
- -
- dbSNP
- rs689470 dbSNP
- Genome
- hg19
- Position
- chr1:186,641,058-186,641,058
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser