chr1:121538815:A>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:121,280,613-121,280,613 View the variant detail on this assembly version. |
| hg38 | chr1:121,538,815-121,538,815 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.027 | |
| 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 | Invasive Ductal Breast Carcinoma | A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... | BeFree | 25120811 | Detail |
| <0.001 | Noninfiltrating Intraductal Carcinoma | A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... | BeFree | 25120811 | Detail |
| <0.001 | Noninfiltrating Intraductal Carcinoma | A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... | BeFree | 25120811 | Detail |
| <0.001 | Noninfiltrating Intraductal Carcinoma | A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... | BeFree | 25120811 | Detail |
| <0.001 | Invasive Ductal Breast Carcinoma | A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... | BeFree | 25120811 | Detail |
| <0.001 | Invasive Ductal Breast Carcinoma | A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (... | BeFree | 25120811 | Detail |
| <0.001 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.132 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.001 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.001 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.003 | breast carcinoma | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.123 | Malignant neoplasm of breast | We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... | BeFree | 21791674 | Detail |
| 0.002 | breast carcinoma | Our results in two independent data sets suggest that rs11249433, which is locat... | BeFree | 24292867 | Detail |
| 0.129 | Mammary Neoplasms | Our results in two independent data sets suggest that rs11249433, which is locat... | BeFree | 24292867 | Detail |
| 0.120 | Malignant neoplasm of breast | Large-scale genotyping identifies 41 new loci associated with breast cancer risk... | GWASCAT | 23535729 | Detail |
| 0.003 | Malignant neoplasm of breast | Our results in two independent data sets suggest that rs11249433, which is locat... | BeFree | 24292867 | Detail |
| <0.001 | breast carcinoma | Our results in two independent data sets suggest that rs11249433, which is locat... | BeFree | 24292867 | Detail |
| 0.129 | Mammary Neoplasms | NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in E... | BeFree | 20482849 | Detail |
| 0.240 | Malignant neoplasm of breast | In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in ... | BeFree | 23977306 | Detail |
| 0.120 | Malignant neoplasm of breast | A multistage genome-wide association study in breast cancer identifies two new r... | GWASCAT | 19330030 | Detail |
| 0.080 | breast carcinoma | In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in ... | BeFree | 23977306 | Detail |
| 0.080 | breast carcinoma | In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in ... | BeFree | 23977306 | Detail |
| 0.353 | Mammary Neoplasms | NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in E... | BeFree | 20482849 | Detail |
| 0.080 | breast carcinoma | A recent genome-wide association study (GWAS) has identified a single nucleotide... | BeFree | 20482849 | Detail |
| 0.004 | Malignant neoplasm of breast | NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in E... | BeFree | 20482849 | Detail |
| 0.132 | Malignant neoplasm of breast | In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in ... | BeFree | 23977306 | Detail |
| 0.004 | Malignant neoplasm of breast | Our results in two independent data sets suggest that rs11249433, which is locat... | BeFree | 24292867 | Detail |
| 0.240 | Malignant neoplasm of breast | A recent genome-wide association study (GWAS) has identified a single nucleotide... | BeFree | 20482849 | Detail |
| <0.001 | Mammary Neoplasms | Our results in two independent data sets suggest that rs11249433, which is locat... | BeFree | 24292867 | Detail |
| 0.002 | breast carcinoma | NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in E... | BeFree | 20482849 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... | DisGeNET | Detail |
| A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... | DisGeNET | Detail |
| A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... | DisGeNET | Detail |
| A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... | DisGeNET | Detail |
| A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... | DisGeNET | Detail |
| A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 1... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... | DisGeNET | Detail |
| Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH... | DisGeNET | Detail |
| Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH... | DisGeNET | Detail |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | DisGeNET | Detail |
| Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH... | DisGeNET | Detail |
| Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH... | DisGeNET | Detail |
| NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tu... | DisGeNET | Detail |
| In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility an... | DisGeNET | Detail |
| A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.... | DisGeNET | Detail |
| In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility an... | DisGeNET | Detail |
| In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility an... | DisGeNET | Detail |
| NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tu... | DisGeNET | Detail |
| A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) ... | DisGeNET | Detail |
| NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tu... | DisGeNET | Detail |
| In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility an... | DisGeNET | Detail |
| Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH... | DisGeNET | Detail |
| A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) ... | DisGeNET | Detail |
| Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH... | DisGeNET | Detail |
| NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tu... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs11249433 dbSNP
- Genome
- hg38
- Position
- chr1:121,538,815-121,538,815
- 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))
- rs11249433
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.027
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 453
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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