chr6:52803889:A>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:52,668,687-52,668,687 View the variant detail on this assembly version. |
| hg38 | chr6:52,803,889-52,803,889 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.878 | |
| 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 |
|---|---|---|---|---|---|
| 0.005 | Malignant neoplasm of urinary bladder | To examine the association of six glutathione transferase (GST) gene polymorphis... | BeFree | 24040330 | Detail |
| 0.004 | Carcinoma of bladder | To examine the association of six glutathione transferase (GST) gene polymorphis... | BeFree | 24040330 | Detail |
| 0.009 | Kidney Failure, Chronic | We examined association between GSTM1 and GSTT1 deletion polymorphisms as well a... | BeFree | 24423050 | Detail |
| 0.001 | kidney failure | We examined association between GSTM1 and GSTT1 deletion polymorphisms as well a... | BeFree | 24423050 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alky... | BeFree | 19448608 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alky... | BeFree | 19448608 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To examine the association of six glutathione transferase (GST) gene polymorphisms (GSTT1, GSTP1/rs1... | DisGeNET | Detail |
| To examine the association of six glutathione transferase (GST) gene polymorphisms (GSTT1, GSTP1/rs1... | DisGeNET | Detail |
| We examined association between GSTM1 and GSTT1 deletion polymorphisms as well as SNPs in GSTA1/rs39... | DisGeNET | Detail |
| We examined association between GSTM1 and GSTT1 deletion polymorphisms as well as SNPs in GSTA1/rs39... | DisGeNET | Detail |
| Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alkylator detoxification... | DisGeNET | Detail |
| Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alkylator detoxification... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3957357 dbSNP
- Genome
- hg38
- Position
- chr6:52,803,889-52,803,889
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs3957357
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.878
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14716
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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