chr11:69513996:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:69,328,764-69,328,764 View the variant detail on this assembly version. |
| hg38 | chr11:69,513,996-69,513,996 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| 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 | breast carcinoma | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.023 | breast carcinoma | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.043 | Malignant neoplasm of breast | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.121 | Malignant neoplasm of breast | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.132 | Malignant neoplasm of breast | The association for rs614367 was specific to estrogen receptor (ER)-positive dis... | BeFree | 22461340 | Detail |
| 0.080 | breast carcinoma | The association for rs614367 was specific to estrogen receptor (ER)-positive dis... | BeFree | 22461340 | Detail |
| 0.240 | Malignant neoplasm of breast | The association for rs614367 was specific to estrogen receptor (ER)-positive dis... | BeFree | 22461340 | Detail |
| 0.080 | breast carcinoma | The association for rs614367 was specific to estrogen receptor (ER)-positive dis... | BeFree | 22461340 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... | DisGeNET | Detail |
| The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... | DisGeNET | Detail |
| The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... | DisGeNET | Detail |
| The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs614367 dbSNP
- Genome
- hg38
- Position
- chr11:69,513,996-69,513,996
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs614367
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0006
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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