chr7:130293134:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:129,932,974-129,964,020 |
| hg38 | chr7:130,293,134-130,324,180 |
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 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
| <0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
| <0.001 | Russell-Silver syndrome | NA | BeFree | Detail | |
| <0.001 | eosinophilic esophagitis | Bioinformatics analysis revealed largely overlapping transcriptomes between pati... | BeFree | 25441638 | Detail |
| 0.003 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Prostate Cancer, Hereditary, 7 | NA | BeFree | Detail | |
| <0.001 | asthma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
| Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bioinformatics analysis revealed largely overlapping transcriptomes between patients with PPI-REE an... | 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
- rs386559608 dbSNP
- Genome
- hg38
- Position
- chr7:130,293,134-130,324,180
- Variant Type
- snv
Genome browser