chr3:50242704:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:50,242,704-50,258,918 |
| hg38 | chr3:50,205,271-50,221,486 |
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 | NAT1 and NAT2 genetic polymorphisms and environmental exposure as risk factors f... | BeFree | 25886288 | Detail |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.003 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Colorectal Neoplasms | NA | BeFree | Detail | |
| 0.003 | glioblastoma | NA | BeFree,LHGDN | Detail | |
| 0.003 | Glioma | NA | BeFree,LHGDN | Detail | |
| <0.001 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Non-Hodgkin | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.003 | Neoplasm Metastasis | NA | BeFree,LHGDN | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.080 | Seizures | NA | RGD | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Cleft palate with cleft lip | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of lung | However, only four of the previously reported associations with polymorphisms in... | BeFree | 18258609 | Detail |
| 0.002 | Carcinoma of lung | However, only four of the previously reported associations with polymorphisms in... | BeFree | 18258609 | Detail |
| 0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Asthma, Occupational | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| <0.001 | Hyperplastic Polyp | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.080 | Endotoxemia | NA | RGD | Detail | |
| <0.001 | Malignant neoplasm of esophagus | We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk ... | BeFree | 25886288 | Detail |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| 0.002 | Carcinogenesis | NA | BeFree | Detail | |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.003 | breast carcinoma | We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein e... | BeFree | 25528056 | Detail |
| 0.002 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.004 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | early pregnancy | NA | BeFree | Detail | |
| <0.001 | Malignant Squamous Cell Neoplasm | NA | BeFree | Detail | |
| <0.001 | Cleft lip with or without cleft palate | NA | BeFree | Detail | |
| <0.001 | Polyp of large intestine | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia/small lymphocytic lymphoma | NA | BeFree | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | NA | BeFree | Detail | |
| 0.001 | Slow acetylator due to N-acetyltransferase enzyme variant | NA | BeFree | Detail | |
| 0.001 | Fast acetylator due to N-acetyltransferase enzyme variant | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | orofacial cleft | NA | BeFree | Detail | |
| <0.001 | Allergic disposition | NA | BeFree | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| <0.001 | aortic valve insufficiency | NA | BeFree | Detail | |
| 0.004 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of breast | We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein e... | BeFree | 25528056 | Detail |
| <0.001 | candidiasis | In multivariate analysis, concomitant use of fluconazole for candidiasis was the... | BeFree | 25184238 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NAT1 and NAT2 genetic polymorphisms and environmental exposure as risk factors for oesophageal squam... | 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 |
| However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... | DisGeNET | Detail |
| However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... | 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 |
| We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk of oesophageal cance... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein expression is correla... | 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 |
| We report that miR-1290 directly targets the NAT1 3'-UTR and that NAT1 protein expression is correla... | DisGeNET | Detail |
| In multivariate analysis, concomitant use of fluconazole for candidiasis was the only factor associa... | 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
- rs386596107 dbSNP
- Genome
- hg19
- Position
- chr3:50,242,704-50,258,918
- Variant Type
- snv
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