chr9:22000247:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,000,247-22,000,247 |
| hg38 | chr9:22,000,248-22,000,248 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:0.199 | |
| 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 |
|---|---|---|---|---|---|
| 0.034 | Malignant neoplasm of breast | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
| 0.016 | breast carcinoma | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
| 0.023 | breast carcinoma | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
| 0.043 | Malignant neoplasm of breast | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
| 0.004 | breast carcinoma | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
| 0.014 | Malignant neoplasm of breast | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
| This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
| This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
| This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
| This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
| This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3218005 dbSNP
- Genome
- hg19
- Position
- chr9:22,000,247-22,000,247
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs3218005
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1986
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3329
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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