SNP Detail For rs17530068
1.Mapping Information
Human SNP ID rs17530068
Human chromosome chr6
Human SNP position 81483392
Pig chromosome chr1
Pig SNP position 95392512
2.Annotation Information
PubMed ID22976474
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22976474
StudyA meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
Disease/TraitBreast cancer
Initial sample3,666 European ancestry cases, 28,864 European ancestry controls, 1,004 African American cases, 2,744 African American controls
Replication sample562 European ancestry cases, 6,410 European ancestry controls, 84 Japanese ancestry cases, 830 Japanese ancestry controls, 300 Latino cases, 1,164 Latino controls
Region6q14.1
Chromosome idchr6
Chromosome position81483392
Reported geneFAM46A, C6orf37
Mapped geneLOC105377870 - LOC101928742
Upstream gene id105377870
Downstream gene id101928742
SNP gene ids
Upstream gene distance559354
Downstream gene distance8047
SNP risk allelers17530068-C
SNPsrs17530068
Merged0
SNP id current17530068
Contextintergenic_variant
Intergenic1
Allele frequency0.24
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta1.16
%95 Ci[1.10-1.23]
PlatformIllumina [2608509] (imputed)
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001683
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
Region6q14.1
Chromosome idchr6
Chromosome position81483392
Reported geneintergenic
Mapped geneLOC105377870 - LOC101928742
Upstream gene id105377870
Downstream gene id101928742
SNP gene ids
Upstream gene distance559354
Downstream gene distance8047
SNP risk allelers17530068-G
SNPsrs17530068
Merged0
SNP id current17530068
Contextintergenic_variant
Intergenic1
Allele frequency0.22
P value0.000000008
Pvalue mlog8.09691001300805
P value text
Or beta1.05
%95 Ci[1.03-1.08]
PlatformAffymetrix, Illumina [~ 2600000] (imputed)
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001937
PubMed ID23535733
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23535733
StudyGenome-wide association studies identify four ER negative-specific breast cancer risk loci.
Disease/TraitBreast cancer
Initial sample4,193 European ancestry cases, 35,194 European ancestry controls
Replication sample6,514 European ancestry cases, 41,455 European ancestry controls
Region6q14.1
Chromosome idchr6
Chromosome position81483392
Reported geneintergenic
Mapped geneLOC105377870 - LOC101928742
Upstream gene id105377870
Downstream gene id101928742
SNP gene ids
Upstream gene distance559354
Downstream gene distance8047
SNP risk allelers17530068-C
SNPsrs17530068
Merged0
SNP id current17530068
Contextintergenic_variant
Intergenic1
Allele frequency0.237
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta1.09
%95 Ci[1.05-1.13]
PlatformIllumina [NR]
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001930