chr11:94227125:C>A Detail (hg19) (MRE11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:94,227,125-94,227,125 |
| hg38 | chr11:94,493,959-94,493,959 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:0.432 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
|
| Review star | ![]() |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
|
2018-06-22 | criteria provided, single submitter | not provided |
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.005 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.021 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.020 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| <0.001 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| <0.001 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.214 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.100 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| <0.001 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.010 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.003 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| 0.014 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
| <0.001 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000011.10:g.94493959C>A AND not provided | ClinVar | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
| SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11020802 dbSNP
- Genome
- hg19
- Position
- chr11:94,227,125-94,227,125
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs11020802
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4323
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7245
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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