chr19:50861863:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:50,861,863-50,886,645 |
| hg38 | chr19:50,358,606-50,383,388 |
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 | squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | CNS disorder | Estrogen receptor β and Liver X receptor β: biology and therapeutic potential in... | BeFree | 24662928 | Detail |
| 0.120 | cholestasis | NA | CTD_human | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.002 | Cockayne syndrome | This conditions NER efficiency and transcription resumption after damage, which ... | BeFree | 25500814 | Detail |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.002 | Coronary heart disease | NA | GAD | Detail | |
| 0.006 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Tonic-Clonic Epilepsy | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| 0.002 | Inflammation | NA | GAD | Detail | |
| 0.002 | Insulin resistance | NA | GAD | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| 0.002 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | Here we reviewed the recent studies on the associations between polymorphisms of... | BeFree | 24769428 | Detail |
| 0.001 | melanoma | NA | BeFree | Detail | |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| <0.001 | osteosarcoma | The aim of the present study was to evaluate the influence of polymorphisms in N... | BeFree | 25755792 | Detail |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Paroxysmal atrial tachycardia | NA | BeFree | Detail | |
| <0.001 | Precancerous Conditions | NA | BeFree | Detail | |
| <0.001 | Seizures | NA | BeFree | Detail | |
| <0.001 | Paroxysmal atrial tachycardia | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.005 | xeroderma pigmentosum | Mutations in nucleotide excision repair (NER) genes are the cause of xeroderma p... | BeFree | 25209577 | Detail |
| 0.005 | xeroderma pigmentosum | Although the roles of XPs in the GG-NER/TC-NER subpathways have been extensively... | BeFree | 25795128 | Detail |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of mouth | NA | BeFree | Detail | |
| <0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Brittle hair | NA | BeFree | Detail | |
| <0.001 | Turcot syndrome (disorder) | NA | BeFree | Detail | |
| <0.001 | Xeroderma pigmentosum, group A | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma Of Esophagus | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of oropharynx | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | Tonic - clonic seizures | NA | BeFree | Detail | |
| <0.001 | Neurodegenerative Disorders | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | The aim of the present study was to evaluate the influence of polymorphisms in N... | BeFree | 25755792 | Detail |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | Here we reviewed the recent studies on the associations between polymorphisms of... | BeFree | 24769428 | Detail |
| 0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | skin carcinoma | NA | BeFree | Detail | |
| <0.001 | Cockayne Syndrome, Type II | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of urinary bladder, superficial | NA | BeFree | Detail | |
| 0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Neurodevelopmental Disorders | NA | BeFree | Detail | |
| <0.001 | UV-sensitive syndrome | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.001 | Trichothiodystrophy Syndromes | NA | BeFree | Detail | |
| 0.120 | liver carcinoma | NA | BeFree,CTD_human | Detail | |
| 0.002 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | NA | BeFree | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| <0.001 | Experimental Organism Basal Cell Carcinoma | SNPs in NER genes seem to have an insignificant influence on the risk of develop... | BeFree | 25209577 | Detail |
| 0.009 | Alzheimer's disease | NA | GAD | Detail | |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| 0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Estrogen receptor β and Liver X receptor β: biology and therapeutic potential in CNS diseases. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This conditions NER efficiency and transcription resumption after damage, which in human cells would... | 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 reviewed the recent studies on the associations between polymorphisms of NER genes and gastr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of the present study was to evaluate the influence of polymorphisms in NER and HRR pathways ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| Mutations in nucleotide excision repair (NER) genes are the cause of xeroderma pigmentosum, a geneti... | DisGeNET | Detail |
| Although the roles of XPs in the GG-NER/TC-NER subpathways have been extensively studied, complete k... | 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 |
| The aim of the present study was to evaluate the influence of polymorphisms in NER and HRR pathways ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here we reviewed the recent studies on the associations between polymorphisms of NER genes and gastr... | 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 |
| SNPs in NER genes seem to have an insignificant influence on the risk of developing BCC of the skin. | 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
- rs386493716 dbSNP
- Genome
- hg19
- Position
- chr19:50,861,863-50,886,645
- Variant Type
- snv
Genome browser