chr5:1315660:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,315,660-1,315,660 |
| hg38 | chr5:1,315,545-1,315,545 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:0.865 | |
| 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 | Smoker's lung | To examine if variation at any of these loci influences the risk of lung cancer ... | BeFree | 19955392 | Detail |
| 0.131 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.157 | Lung Neoplasms | [Deciphering the impact of common genetic variation on lung cancer risk: a genom... | GAD | 19654303 | Detail |
| 0.143 | Malignant neoplasm of lung | [Deciphering the impact of common genetic variation on lung cancer risk: a genom... | GAD | 19654303 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| 0.003 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To examine if variation at any of these loci influences the risk of lung cancer in never-smokers, we... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association s... | DisGeNET | Detail |
| [Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association s... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4975616 dbSNP
- Genome
- hg19
- Position
- chr5:1,315,660-1,315,660
- 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))
- rs4975616
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8649
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14495
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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