chr19:48618702:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:48,618,702-48,673,860 |
| hg38 | chr19:48,115,445-48,170,603 |
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 |
|---|---|---|---|---|---|
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.008 | Glioma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Graft-vs-Host Disease | NA | GAD | Detail | |
| 0.002 | Head and Neck Neoplasms | NA | GAD | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
| 0.008 | Glioma | In the single-locus analysis, six single-nucleotide polymorphisms [ERCC1 3' untr... | BeFree | 19124499 | Detail |
| 0.002 | Leukemia, Myeloid, Chronic-Phase | NA | GAD | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.002 | Lung Neoplasms | NA | GAD | Detail | |
| 0.002 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.002 | meningioma | NA | GAD | Detail | |
| <0.001 | neuroblastoma | Inhibition of Lig3 and Lig1 led to DSB accumulation and cell death, linking alt-... | BeFree | 25563294 | Detail |
| 0.002 | acoustic neuroma | NA | GAD | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.008 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.002 | Hematologic Neoplasms | NA | GAD | Detail | |
| 0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | Inhibition of Lig3 and Lig1 led to DSB accumulation and cell death, linking alt-... | BeFree | 25563294 | Detail |
| 0.002 | Mammary Neoplasms | NA | GAD | Detail | |
| 0.007 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.120 | Bladder Neoplasm | NA | CTD_human | Detail | |
| <0.001 | Bloom syndrome | NA | BeFree | Detail | |
| 0.005 | Brain Neoplasms | NA | GAD | Detail | |
| 0.007 | Malignant neoplasm of breast | NA | GAD | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the single-locus analysis, six single-nucleotide polymorphisms [ERCC1 3' untranslated region (UTR... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Inhibition of Lig3 and Lig1 led to DSB accumulation and cell death, linking alt-NHEJ to cell surviva... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Inhibition of Lig3 and Lig1 led to DSB accumulation and cell death, linking alt-NHEJ to cell surviva... | 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
- rs386526551 dbSNP
- Genome
- hg19
- Position
- chr19:48,618,702-48,673,860
- Variant Type
- snv
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