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rs11249433

From SNPedia

Orientationminus
Stabilizedplus
Make rs11249433(C;C)
Make rs11249433(C;T)
Make rs11249433(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position121538815
GeneEMBP1
is asnp
is mentioned by
dbSNPrs11249433
ebirs11249433
HLIrs11249433
Exacrs11249433
Varsomers11249433
Maprs11249433
PheGenIrs11249433
hapmaprs11249433
1000 genomesrs11249433
hgdprs11249433
ensemblrs11249433
gopubmedrs11249433
geneviewrs11249433
scholarrs11249433
googlers11249433
pharmgkbrs11249433
gwascentralrs11249433
openSNPrs11249433
23andMers11249433
23andMe allrs11249433
SNP Nexus

SNPshotrs11249433
SNPdbers11249433
MSV3drs11249433
GWAS Ctlgrs11249433
GMAF0.2167
Max Magnitude
? (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 19330030OA-icon.png] A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).



[PMID 20482849OA-icon.png] NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations

OMIM114480
Desc
Variant
Relatedalso


[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies


[PMID 21738711OA-icon.png] Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in chinese women


[PMID 21791674OA-icon.png] 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 21852249OA-icon.png] 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 21593217OA-icon.png] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

[PMID 20085711OA-icon.png] Leveraging genetic variability across populations for the identification of causal variants.

[PMID 20237344OA-icon.png] Performance of common genetic variants in breast-cancer risk models.


GET Evidence
rs11249433
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.214286
summary



[PMID 23977314OA-icon.png] Association between 1p11-rs11249433 Polymorphism and Breast Cancer Susceptibility: Evidence from 15 Case-Control Studies


[PMID 24292867OA-icon.png] Breast cancer susceptibility risk associations and heterogeneity by E-cadherin tumor tissue expression

GWAS snp
PMID [PMID 23535729OA-icon.png]
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 25120811OA-icon.png] Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population


[PMID 25139936OA-icon.png] 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.