chr21:33040029:A>G Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,040,029-33,040,029 |
| hg38 | chr21:31,667,716-31,667,716 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.357+341A>G | |
| Ensemble | ENST00000270142.11:c.357+341A>G | |
| ENST00000389995.4:c.300+341A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.517 | |
| 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 |
|---|---|---|---|---|---|
| 0.005 | prostate carcinoma | Two variants in SOD2 were significantly associated with the risk of aggressive p... | BeFree | 20477822 | Detail |
| 0.045 | Malignant neoplasm of prostate | Two variants in SOD2 were significantly associated with the risk of aggressive p... | BeFree | 20477822 | Detail |
| 0.011 | Malignant neoplasm of prostate | Two variants in SOD2 were significantly associated with the risk of aggressive p... | BeFree | 20477822 | Detail |
| 0.001 | prostate carcinoma | Two variants in SOD2 were significantly associated with the risk of aggressive p... | BeFree | 20477822 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... | DisGeNET | Detail |
| Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... | DisGeNET | Detail |
| Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... | DisGeNET | Detail |
| Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4816407 dbSNP
- Genome
- hg19
- Position
- chr21:33,040,029-33,040,029
- 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))
- rs4816407
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5171
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8667
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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