SNP Detail For rs11249433
1.Mapping Information
Human SNP ID rs11249433
Human chromosome chr1
Human SNP position 121538815
Pig chromosome chr16
Pig SNP position 31732643
2.Annotation Information
PubMed ID19330030
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19330030
StudyA multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
Disease/TraitBreast cancer
Initial sample1,145 European ancestry cases, 1,142 European ancestry controls
Replication sample8,625 European ancestry cases, 9,657 European ancestry controls
Region1p11.2
Chromosome idchr1
Chromosome position121538815
Reported geneintergenic
Mapped geneEMBP1
Upstream gene id
Downstream gene id
SNP gene ids647121
Upstream gene distance
Downstream gene distance
SNP risk allelers11249433-C
SNPsrs11249433
Merged0
SNP id current11249433
Contextintron_variant
Intergenic0
Allele frequency0.39
P value0.0000000007
Pvalue mlog9.15490195998574
P value text
Or beta1.16
%95 Ci[1.09-1.24] (Het)
PlatformIllumina [528173]
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST000365
PubMed ID23535729
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23535729
StudyLarge-scale genotyping identifies 41 new loci associated with breast cancer risk.
Disease/TraitBreast cancer
Initial sample10,052 European ancestry cases, 12,575 European ancestry controls
Replication sample45,290 European ancestry cases, 41,880 European ancestry controls
Region1p11.2
Chromosome idchr1
Chromosome position121538815
Reported geneintergenic
Mapped geneEMBP1
Upstream gene id
Downstream gene id
SNP gene ids647121
Upstream gene distance
Downstream gene distance
SNP risk allelers11249433-G
SNPsrs11249433
Merged0
SNP id current11249433
Contextintron_variant
Intergenic0
Allele frequency0.4
P value2E-26
Pvalue mlog25.698970004336
P value text
Or beta1.09
%95 Ci[1.07-1.11]
PlatformAffymetrix, Illumina [~ 2600000] (imputed)
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001937