chr9:22062135:G>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:22,062,134-22,062,134 View the variant detail on this assembly version. |
| hg38 | chr9:22,062,135-22,062,135 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.050 | |
| 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 |
|---|---|---|---|---|---|
| 0.120 | Malignant neoplasm of breast | Genome-wide association study identifies five new breast cancer susceptibility l... | GWASCAT | 20453838 | Detail |
| <0.001 | Malignant neoplasm of breast | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.080 | breast carcinoma | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carr... | BeFree | 22348646 | Detail |
| 0.023 | breast carcinoma | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.043 | Malignant neoplasm of breast | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.120 | Malignant neoplasm of breast | Large-scale genotyping identifies 41 new loci associated with breast cancer risk... | GWASCAT | 23535729 | Detail |
| 0.240 | Malignant neoplasm of breast | Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carr... | BeFree | 22348646 | Detail |
| 0.120 | Malignant neoplasm of breast | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
| 0.121 | Malignant neoplasm of breast | Recent genome-wide association studies of breast cancer have identified eight ad... | BeFree | 22348646 | Detail |
| 0.023 | breast carcinoma | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
| 0.043 | Malignant neoplasm of breast | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genome-wide association study identifies five new breast cancer susceptibility loci. | DisGeNET | Detail |
| Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
| Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | DisGeNET | Detail |
| Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-... | DisGeNET | Detail |
| Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
| Recent genome-wide association studies of breast cancer have identified eight additional breast canc... | DisGeNET | Detail |
| Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
| Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
| Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1011970 dbSNP
- Genome
- hg38
- Position
- chr9:22,062,135-22,062,135
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs1011970
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.05
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 838
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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