chr16:8991190:G>A Detail (hg19) (USP7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:8,991,190-8,991,190 |
| hg38 | chr16:8,897,333-8,897,333 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001321858.1:c.2719-234C>T | |
| NM_003470.2:c.2719-234C>T | ||
| NR_135826.1:c.2719-234C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.260 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | prostate carcinoma | Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associat... | BeFree | 20855462 | Detail |
| 0.124 | Malignant neoplasm of prostate | Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associat... | BeFree | 20855462 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associated with higher D'Ami... | DisGeNET | Detail |
| Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associated with higher D'Ami... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1529916 dbSNP
- Genome
- hg19
- Position
- chr16:8,991,190-8,991,190
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1529916
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2602
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4361
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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