chr6:159683812:G>T Detail (hg38) (SOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:160,104,844-160,104,844 View the variant detail on this assembly version. |
| hg38 | chr6:159,683,812-159,683,812 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001322814.1:c.406+1042C>A | |
| NM_001024466.2:c.406+1042C>A | ||
| NM_001024465.2:c.523+1042C>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.479 | |
| 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
- rs2758330 dbSNP
- Genome
- hg38
- Position
- chr6:159,683,812-159,683,812
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs2758330
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4787
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8023
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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