chr16:80650805:A>G Detail (hg19) (CDYL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:80,650,805-80,650,805 |
| hg38 | chr16:80,616,908-80,616,908 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_152342.3:c.1007+3855T>C | |
| Ensemble | ENST00000562812.5:c.1010+3855T>C | |
| ENST00000566173.3:c.1010+3855T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.038 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Malignant neoplasm of breast | Large-scale genotyping identifies 41 new loci associated with breast cancer risk... | GWASCAT | 23535729 | Detail |
| 0.121 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.002 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.003 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.031 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.230 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.138 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.122 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.009 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.132 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs13329835 dbSNP
- Genome
- hg19
- Position
- chr16:80,650,805-80,650,805
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs13329835
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0379
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 636
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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