chr17:56356727:A>G Detail (hg19) (MPO)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:56,356,727-56,356,727 |
| hg38 | chr17:58,279,366-58,279,366 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000250.1:c.609T>C | NP_000241.1:p.Tyr203= |
| Ensemble | ENST00000225275.4:c.609T>C | ENST00000225275.4:p.Tyr203= |
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 |
|---|---|---|---|---|---|
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.002 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| <0.001 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| 0.012 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| 0.003 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| <0.001 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| 0.124 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| 0.002 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
| <0.001 | Non-small cell lung carcinoma | The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... | BeFree | 16157195 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | DisGeNET | Detail |
| The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... | 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
- chr17:56,356,727-56,356,727
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 2688
- 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)
- 38278
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.6124666910496892E-5
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