chr8:130491752:T>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:130,491,752-130,491,752 |
| hg38 | chr8:129,479,506-129,479,506 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:0.129 | |
| 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 | glioblastoma | We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM an... | BeFree | 20368557 | Detail |
| <0.001 | Astrocytoma | In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an incr... | BeFree | 26014354 | Detail |
| 0.130 | Glioma | [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x... | GAD | 19578367 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We identified LIG4 rs7325927 and BTBD2 rs11670188 as predictors of STS in GBM and CCDC26 rs10464870 ... | DisGeNET | Detail |
| In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an increased risk of non-as... | DisGeNET | Detail |
| [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs891835 dbSNP
- Genome
- hg19
- Position
- chr8:130,491,752-130,491,752
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs891835
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1291
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2164
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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