chr12:54685895:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:54,685,895-54,694,799 |
| hg38 | chr12:54,292,111-54,301,015 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
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 | Acute Erythroblastic Leukemia | NA | BeFree | Detail | |
| <0.001 | Mycoplasma Infections | NA | BeFree | Detail | |
| <0.001 | myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
| <0.001 | bullous pemphigoid | NA | BeFree | Detail | |
| <0.001 | polycythemia | NA | BeFree | Detail | |
| 0.001 | polycythemia vera | NA | BeFree | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| <0.001 | vitiligo | NA | BeFree | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| 0.120 | Platelet mean volume finding | NA | GWASCAT | Detail | |
| <0.001 | Thrombocythemia, Essential | Here we show that NF-E2 expression is also increased in patients with essential ... | BeFree | 20339092 | Detail |
| <0.001 | Myeloproliferative disease | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... | BeFree | 22579713 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Chronic myeloproliferative disorder | The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... | BeFree | 22579713 | Detail |
| <0.001 | Primary myelofibrosis | Here we show that NF-E2 expression is also increased in patients with essential ... | BeFree | 20339092 | Detail |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | Secondary polycythemia | NA | BeFree | Detail | |
| <0.001 | Erythrocytosis | NA | BeFree | Detail | |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | BeFree | Detail | |
| <0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | anemia | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and ... | DisGeNET | Detail |
| The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... | DisGeNET | Detail |
| Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs386626619 dbSNP
- Genome
- hg19
- Position
- chr12:54,685,895-54,694,799
- Variant Type
- snv
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