chr5:10467590:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:10,467,702-10,467,702 View the variant detail on this assembly version. |
| hg38 | chr5:10,467,590-10,467,590 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.652 | |
| 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 |
|---|---|---|---|---|---|
| 0.010 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.006 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.166 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.031 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.230 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.170 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.240 | Malignant neoplasm of breast | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
| 0.080 | breast carcinoma | In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... | BeFree | 22452962 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
| In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1092913 dbSNP
- Genome
- hg38
- Position
- chr5:10,467,590-10,467,590
- 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))
- rs1092913
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6524
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10934
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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