chr1:198638968:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:198,608,098-198,726,605 |
| hg38 | chr1:198,638,968-198,757,476 |
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 | cholestasis | The in vivo experiments using PXR siRNA revealed that Tan IIA could protect agai... | BeFree | 25660334 | Detail |
| <0.001 | Bronchitis, Chronic | NA | BeFree | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| 0.120 | ulcerative colitis | NA | GWASCAT | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| <0.001 | common variable immunodeficiency | NA | BeFree | Detail | |
| <0.001 | Conjunctival Diseases | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | Infection by Cryptococcus neoformans | NA | BeFree | Detail | |
| <0.001 | Mental Depression | NA | BeFree | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| 0.006 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
| 0.003 | Pathological Dilatation | NA | LHGDN | Detail | |
| 0.003 | Fetal Distress | NA | LHGDN | Detail | |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| <0.001 | Graft-vs-Host Disease | NA | BeFree | Detail | |
| 0.008 | Graves Disease | NA | BeFree,GAD | Detail | |
| <0.001 | hemangioma | NA | BeFree | Detail | |
| 0.003 | hepatitis B | NA | BeFree,GAD | Detail | |
| 0.002 | Hepatitis, Chronic | NA | GAD | Detail | |
| 0.125 | hepatitis C | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.011 | HIV Infections | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
| <0.001 | Immune System Diseases | NA | BeFree | Detail | |
| 0.003 | Inflammatory Bowel Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | Kartagener syndrome | NA | BeFree | Detail | |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.001 | leukemia | NA | BeFree | Detail | |
| 0.002 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | lymphoid leukemia | NA | BeFree | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.002 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree | Detail | |
| <0.001 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree | Detail | |
| <0.001 | lipodystrophy | NA | BeFree | Detail | |
| 0.083 | Lupus Erythematosus, Systemic | NA | BeFree,GAD,MGD | Detail | |
| <0.001 | Lymphohistiocytosis, Hemophagocytic | NA | BeFree | Detail | |
| 0.003 | lymphoma | Using flow cytometry we analyzed the expression of CD10, CD19, CD20, CD38 and CD... | BeFree | 24397618 | Detail |
| <0.001 | reticulosarcoma | NA | BeFree | Detail | |
| 0.002 | lymphopenia | NA | GAD | Detail | |
| <0.001 | Waldenstrom Macroglobulinemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| <0.001 | Monoclonal Gammopathy of Undetermined Significance | NA | BeFree | Detail | |
| 0.011 | multiple myeloma | Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD... | BeFree,LHGDN | 24395190 | Detail |
| 0.147 | multiple sclerosis | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.003 | myasthenia gravis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Myelodysplasia | NA | BeFree | Detail | |
| 0.003 | myocardial infarction | NA | LHGDN | Detail | |
| <0.001 | myocarditis | NA | BeFree | Detail | |
| <0.001 | Nasal Polyps | Flow cytometric analysis showed that CD1a(+) cells in NPs might be a subset of m... | BeFree | 25469646 | Detail |
| 0.002 | neuroblastoma | We first identified an inverse correlation of MYCN expression with CD45 mRNA in ... | BeFree | 26076666 | Detail |
| <0.001 | plasmacytoma | Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD... | BeFree | 24395190 | Detail |
| <0.001 | Preleukemia | NA | BeFree | Detail | |
| <0.001 | Psychotic Disorders | NA | BeFree | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| <0.001 | Respiratory Syncytial Virus Infections | In this study, following intranasal infection with RSV, BALB/c mice showed a mar... | BeFree | 25721734 | Detail |
| <0.001 | retinal degeneration | These results suggest that LCA-associated NMNAT1 mutants are more vulnerable to ... | BeFree | 26018082 | Detail |
| 0.120 | Retinal Diseases | NA | CTD_human | Detail | |
| <0.001 | retinitis pigmentosa | NA | BeFree | Detail | |
| <0.001 | rhabdomyosarcoma | NA | BeFree | Detail | |
| <0.001 | Kaposi sarcoma | NA | BeFree | Detail | |
| 0.006 | systemic scleroderma | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | thromboangiitis obliterans | NA | BeFree | Detail | |
| <0.001 | thymoma | NA | BeFree | Detail | |
| 0.002 | B-Cell Lymphomas | The antigenic pattern of bright CD38 and dim CD45 was unique to the MYC-rearrang... | BeFree | 24397618 | Detail |
| <0.001 | diffuse large B-cell lymphoma | The antigenic pattern of bright CD38 and dim CD45 was unique to the MYC-rearrang... | BeFree | 24397618 | Detail |
| <0.001 | Immunoblastic Large-Cell Lymphoma | NA | BeFree | Detail | |
| 0.004 | severe combined immunodeficiency | NA | BeFree,GAD | Detail | |
| <0.001 | cerebral amyloid angiopathy | NA | BeFree | Detail | |
| <0.001 | polymyositis | NA | BeFree | Detail | |
| <0.001 | Hamman-Rich syndrome | NA | BeFree | Detail | |
| <0.001 | Pancreatitis, Chronic | NA | BeFree | Detail | |
| <0.001 | Migraine Disorders | NA | BeFree | Detail | |
| <0.001 | Granulocytic Sarcoma | NA | BeFree | Detail | |
| <0.001 | Ki-1+ Anaplastic Large Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Strawberry nevus of skin | IHC staining showed a subpopulation of CD45+ interstitial cells that expressed t... | BeFree | 26067666 | Detail |
| <0.001 | Mastocytosis, Systemic | NA | BeFree | Detail | |
| <0.001 | X-linked agammaglobulinemia | NA | BeFree | Detail | |
| 0.005 | Paraparesis | NA | GAD | Detail | |
| <0.001 | Memory impairment | Second, CD45(+) microglial activation correlates with the spatial memory deficit... | BeFree | 25833819 | Detail |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Inclusion Body Myositis (disorder) | NA | BeFree | Detail | |
| 0.008 | Hepatitis, Autoimmune | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | X-linked hypogammaglobulinemia | NA | BeFree | Detail | |
| <0.001 | Neoplasm, Residual | NA | BeFree | Detail | |
| <0.001 | Amyloidosis, familial visceral | NA | BeFree | Detail | |
| <0.001 | Familial Cerebral Amyloid Angiopathy | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma Of Esophagus | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | stage, neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| <0.001 | Tumor necrosis | This study did not replicate the association between PTPRC and the response to a... | BeFree | 25834819 | Detail |
| 0.003 | Leber congenital amaurosis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Nonorganic psychosis | NA | BeFree | Detail | |
| <0.001 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | In this study, following intranasal infection with RSV, BALB/c mice showed a mar... | BeFree | 25721734 | Detail |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Transplant glomerulopathy | NA | BeFree | Detail | |
| 0.002 | lupus erythematosus | NA | GAD | Detail | |
| <0.001 | Trisomy 12 | NA | BeFree | Detail | |
| <0.001 | Chromosome 8, trisomy | NA | BeFree | Detail | |
| <0.001 | Low grade B-cell lymphoma | Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD... | BeFree | 24395190 | Detail |
| <0.001 | Carcinogenesis | We have developed a staining protocol for clinical samples, including standard C... | BeFree | 24681997 | Detail |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Progressive Neoplastic Disease | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.002 | Central neuroblastoma | We first identified an inverse correlation of MYCN expression with CD45 mRNA in ... | BeFree | 26076666 | Detail |
| <0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
| <0.001 | Precursor B-lymphoblastic lymphoma | NA | BeFree | Detail | |
| <0.001 | Renal ischaemia | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | attention deficit hyperactivity disorder | NA | BeFree | Detail | |
| <0.001 | Primary Effusion Lymphoma | NA | BeFree | Detail | |
| 0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | T-cell/histiocyte rich large B-cell lymphoma | NA | BeFree | Detail | |
| <0.001 | Classical Hodgkin's Lymphoma | NA | BeFree | Detail | |
| <0.001 | mesenchymal cell neoplasm | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Cerebral Amyloid Angiopathy, Hereditary | NA | BeFree | Detail | |
| <0.001 | Astler-Coller B1 Rectal Carcinoma | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Idiopathic Pulmonary Fibrosis | NA | BeFree | Detail | |
| 0.120 | Hepatitis C virus, susceptibility to | NA | CLINVAR | Detail | |
| <0.001 | Aural atresia, congenital | NA | BeFree | Detail | |
| <0.001 | plasma cell neoplasm | Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD... | BeFree | 24395190 | Detail |
| <0.001 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree | Detail | |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | T-Lymphocytopenia | NA | BeFree | Detail | |
| <0.001 | Plaque, Amyloid | NA | BeFree | Detail | |
| 0.080 | Neointima | NA | RGD | Detail | |
| <0.001 | plasmablastic lymphoma | NA | BeFree | Detail | |
| <0.001 | Progressive cGVHD | NA | BeFree | Detail | |
| 0.005 | Infection | NA | LHGDN | Detail | |
| <0.001 | AIDS Dementia Complex | NA | BeFree | Detail | |
| 0.003 | Alzheimer's disease | NA | BeFree,GAD | Detail | |
| <0.001 | Aneurysm | NA | BeFree | Detail | |
| <0.001 | aortic aneurysm | NA | BeFree | Detail | |
| 0.131 | rheumatoid arthritis | TRAF1/C5 but not PTPRC variants are potential predictors of rheumatoid arthritis... | BeFree,CTD_human,GAD | 25834819 | Detail |
| 0.002 | ascariasis | NA | GAD | Detail | |
| <0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
| <0.001 | Bacterial Infections | NA | BeFree | Detail | |
| <0.001 | Burkitt lymphoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The in vivo experiments using PXR siRNA revealed that Tan IIA could protect against LCA-induced hepa... | 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 |
| 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 |
| 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using flow cytometry we analyzed the expression of CD10, CD19, CD20, CD38 and CD45 in 53 patients wi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD138, CD45 and other ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Flow cytometric analysis showed that CD1a(+) cells in NPs might be a subset of mDC1s and that CD45(+... | DisGeNET | Detail |
| We first identified an inverse correlation of MYCN expression with CD45 mRNA in 101 NB tumor samples... | DisGeNET | Detail |
| Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD138, CD45 and other ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, following intranasal infection with RSV, BALB/c mice showed a marked increase in the ... | DisGeNET | Detail |
| These results suggest that LCA-associated NMNAT1 mutants are more vulnerable to stressful conditions... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The antigenic pattern of bright CD38 and dim CD45 was unique to the MYC-rearranged neoplasms when co... | DisGeNET | Detail |
| The antigenic pattern of bright CD38 and dim CD45 was unique to the MYC-rearranged neoplasms when co... | 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 |
| IHC staining showed a subpopulation of CD45+ interstitial cells that expressed the T lymphocyte mark... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Second, CD45(+) microglial activation correlates with the spatial memory deficit and spread of tau p... | 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 |
| This study did not replicate the association between PTPRC and the response to anti-TNF treatment in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, following intranasal infection with RSV, BALB/c mice showed a marked increase in the ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD138, CD45 and other ... | DisGeNET | Detail |
| We have developed a staining protocol for clinical samples, including standard CTC markers; DAPI, cy... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We first identified an inverse correlation of MYCN expression with CD45 mRNA in 101 NB tumor samples... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD138, CD45 and other ... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TRAF1/C5 but not PTPRC variants are potential predictors of rheumatoid arthritis response to anti-tu... | 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
- -
- Genome
- hg38
- Position
- chr1:198,638,968-198,757,476
- Variant Type
- snv
Genome browser