chr12:12714547:G>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:12,867,481-12,867,481 View the variant detail on this assembly version. |
| hg38 | chr12:12,714,547-12,714,547 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.195 | |
| 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 | Malignant neoplasm of endometrium | Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216,... | BeFree | 21454826 | Detail |
| 0.002 | endometrial carcinoma | Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216,... | BeFree | 21454826 | Detail |
| 0.001 | uterine corpus cancer | Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216,... | BeFree | 21454826 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were r... | DisGeNET | Detail |
| Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were r... | DisGeNET | Detail |
| Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were r... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11055027 dbSNP
- Genome
- hg38
- Position
- chr12:12,714,547-12,714,547
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs11055027
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1951
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3270
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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