chr5:131413255:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,413,255-131,413,255 |
| hg38 | chr5:132,077,562-132,077,562 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.592 | |
| 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 | |
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 | CARCINOMA OF VULVA | We also observed significantly increased risk of HPV-positive vulvar cancers ass... | BeFree | 26241630 | Detail |
| <0.001 | CARCINOMA OF VULVA | We also observed significantly increased risk of HPV-positive vulvar cancers ass... | BeFree | 26241630 | Detail |
| <0.001 | Malignant neoplasm of vulva | We also observed significantly increased risk of HPV-positive vulvar cancers ass... | BeFree | 26241630 | Detail |
| <0.001 | Malignant neoplasm of vulva | We also observed significantly increased risk of HPV-positive vulvar cancers ass... | BeFree | 26241630 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... | DisGeNET | Detail |
| We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... | DisGeNET | Detail |
| We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... | DisGeNET | Detail |
| We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs27438 dbSNP
- Genome
- hg19
- Position
- chr5:131,413,255-131,413,255
- 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))
- rs27438
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.592
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9922
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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