{{Rsnum
|rsid=11249433
|Gene=EMBP1
|Chromosome=1
|position=121538815
|Orientation=plus
|GMAF=0.2167
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EMBP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 16.8 | 51.3 | 31.9
| HCB | 0.0 | 4.4 | 95.6
| JPT | 0.0 | 5.3 | 94.7
| YRI | 0.0 | 13.6 | 86.4
| ASW | 0.0 | 17.5 | 82.5
| CHB | 0.0 | 4.4 | 95.6
| CHD | 0.0 | 3.7 | 96.3
| GIH | 1.0 | 26.7 | 72.3
| LWK | 0.9 | 17.3 | 81.8
| MEX | 6.9 | 29.3 | 63.8
| MKK | 1.3 | 18.6 | 80.1
| TSI | 22.5 | 40.2 | 37.3
| HapMapRevision=28
}}[http://www.nih.gov/news/health/mar2009/nci-29.htm 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 Auto
|PMID=19330030
|Title=A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
|OA=1
}}

{{PharmGKB
|RSID=rs11249433
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:19330030; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A multistage genome-wide association study in Breast Cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). (Initial Sample Size: 1,145 cases, 1,142 controls; Replication Sample Size: 8,625 cases, 9,657 controls); (Region: 1p11.2; Reported Gene(s): Intergenic; Risk Allele: rs11249433-C); (p-value= 0.0000000007).This variant is associated with Breast Cancer.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739885
}}

{{PMID Auto
|PMID=20482849
|Title=NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations
|OA=1
}}

{{omim
|id=114480
|rsnum=11249433
}}

{{PMID Auto
|PMID=21445572
|Title=Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
}}

{{PMID Auto
|PMID=21738711
|Title=Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in chinese women
|OA=1
}}

{{PMID Auto
|PMID=21791674
|Title=Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
|OA=1
}}
no significant association was observed between rs11249433 and breast cancer risk in this Chinese population

{{PMID Auto
|PMID=21852249
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=21593217
|Title=Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
|OA=1
}}

{{PMID|20085711|OA=1
}} Leveraging genetic variability across populations for the identification of causal variants.

{{PMID|20237344|OA=1
}} Performance of common genetic variants in breast-cancer risk models.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11249433
|overall_frequency_n=27
|overall_frequency_d=126
|overall_frequency=0.214286
|n_genomes=19
|n_genomes_annotated=0
|n_haplomes=23
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23977314
|Title=Association between 1p11-rs11249433 Polymorphism and Breast Cancer Susceptibility: Evidence from 15 Case-Control Studies
|OA=1
}}

{{PMID Auto
|PMID=24292867
|Title=Breast cancer susceptibility risk associations and heterogeneity by E-cadherin tumor tissue expression
}}

{{PMID Auto GWAS
  |PMID=23535729
  |Trait=Breast cancer
  |Title=Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
  |RiskAllele=G
  |Pval=2E-26
  |OR=1.09
  |ORtxt=[1.07-1.11]
  |OA=1
}}

{{PMID Auto
|PMID=25120811
|Title=Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population
}}

{{PMID Auto
|PMID=25139936
|Title=Association of Cancer Susceptibility Variants with Risk of Multiple Primary Cancers: the Population Architecture using Genomics and Epidemiology Study
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}