rs11249433
| Orientation | minus |
| Stabilized | minus |
| Make rs11249433(C;C) |
| Make rs11249433(C;T) |
| Make rs11249433(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 121538815 |
| Gene | EMBP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11249433 |
| dbSNP (classic) | rs11249433 |
| ClinGen | rs11249433 |
| ebi | rs11249433 |
| HLI | rs11249433 |
| Exac | rs11249433 |
| Gnomad | rs11249433 |
| Varsome | rs11249433 |
| LitVar | rs11249433 |
| Map | rs11249433 |
| PheGenI | rs11249433 |
| Biobank | rs11249433 |
| 1000 genomes | rs11249433 |
| hgdp | rs11249433 |
| ensembl | rs11249433 |
| geneview | rs11249433 |
| scholar | rs11249433 |
| rs11249433 | |
| pharmgkb | rs11249433 |
| gwascentral | rs11249433 |
| openSNP | rs11249433 |
| 23andMe | rs11249433 |
| SNPshot | rs11249433 |
| SNPdbe | rs11249433 |
| MSV3d | rs11249433 |
| GWAS Ctlg | rs11249433 |
| GMAF | 0.2167 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
NIH Although the function of this SNP is unknown, further analysis by the CGEMS team found that this region is predominately associated with estrogen receptor-positive breast cancer. From one person's DeCode report, it appears that the risk allele is C (relative risk 1.18 with two copies; apparently this information comes from a study or studies involving 9,335 cases and 10,263 controls).
[PMID 19330030
] A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
[PMID 20482849] NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations
[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
[PMID 21738711] Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in chinese women
[PMID 21791674] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
no significant association was observed between rs11249433 and breast cancer risk in this Chinese population
[PMID 21852249] Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium
[PMID 21593217] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
[PMID 20085711] Leveraging genetic variability across populations for the identification of causal variants.
[PMID 20237344] Performance of common genetic variants in breast-cancer risk models.
[PMID 23977314] Association between 1p11-rs11249433 Polymorphism and Breast Cancer Susceptibility: Evidence from 15 Case-Control Studies
[PMID 24292867] Breast cancer susceptibility risk associations and heterogeneity by E-cadherin tumor tissue expression
| GWAS snp | |
|---|---|
| PMID | [PMID 23535729]
|
| Trait | Breast cancer |
| Title | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. |
| Risk Allele | G |
| P-val | 2E-26 |
| Odds Ratio | 1.09 [1.07-1.11] |
[PMID 25120811] Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population
[PMID 25139936] Association of Cancer Susceptibility Variants with Risk of Multiple Primary Cancers: the Population Architecture using Genomics and Epidemiology Study
[PMID 27556229] Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
