chr11:69328764:C>T Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:69,328,764-69,328,764 |
hg38 | chr11:69,513,996-69,513,996 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:<0.001 | |
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
- hg19
- Position
- chr11:69,328,764-69,328,764
- 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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