chr16:52635164:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:52,635,164-52,635,164 |
| hg38 | chr16:52,601,252-52,601,252 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:0.762 | |
| 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 |
|---|---|---|---|---|---|
| 0.128 | Malignant neoplasm of breast | Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide ass... | GWASCAT | 21263130 | Detail |
| <0.001 | Breast Cancer, Familial | Seven of the 19 markers were significant in a multivariate predictive model of f... | BeFree | 23354978 | Detail |
| <0.001 | Breast Cancer, Familial | Seven of the 19 markers were significant in a multivariate predictive model of f... | BeFree | 23354978 | Detail |
| 0.122 | Breast Cancer, Familial | Seven of the 19 markers were significant in a multivariate predictive model of f... | BeFree | 23354978 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. | DisGeNET | Detail |
| Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... | DisGeNET | Detail |
| Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... | DisGeNET | Detail |
| Seven of the 19 markers were significant in a multivariate predictive model of familial breast cance... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3112612 dbSNP
- Genome
- hg19
- Position
- chr16:52,635,164-52,635,164
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs3112612
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7624
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12777
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser