SNP Detail For rs17356907
1.Mapping Information
Human SNP ID rs17356907
Human chromosome chr12
Human SNP position 95633983
Pig chromosome chr5
Pig SNP position 92002211
2.Annotation Information
PubMed ID22747683
JournalBMC Med Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22747683
StudyGenetic variants associated with breast size also influence breast cancer risk.
Disease/TraitBreast size
Initial sample16,175 European ancestry female individuals
Replication sampleNA
Region12q22
Chromosome idchr12
Chromosome position95633983
Reported geneNEDD1, MIR135A2
Mapped geneUSP44 - PGAM1P5
Upstream gene id84101
Downstream gene id100132594
SNP gene ids
Upstream gene distance82454
Downstream gene distance15272
SNP risk allelers17356907-G
SNPsrs17356907
Merged0
SNP id current17356907
Contextintron_variant
Intergenic1
Allele frequency0.296
P value0.000001
Pvalue mlog6
P value text
Or beta0.081
%95 Ci[0.048-0.114] cup size increase
PlatformIllumina [7422970] (imputed)
CNVN
Mapped traitbreast size, breast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004884, http://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001585
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
Region12q22
Chromosome idchr12
Chromosome position95633983
Reported geneNTN4
Mapped geneUSP44 - PGAM1P5
Upstream gene id84101
Downstream gene id100132594
SNP gene ids
Upstream gene distance82454
Downstream gene distance15272
SNP risk allelers17356907-A
SNPsrs17356907
Merged0
SNP id current17356907
Contextintron_variant
Intergenic1
Allele frequency0.7
P value2E-22
Pvalue mlog21.698970004336
P value text
Or beta1.1
%95 Ci[1.08-1.12]
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
Region12q22
Chromosome idchr12
Chromosome position95633983
Reported geneNTN4
Mapped geneUSP44 - PGAM1P5
Upstream gene id84101
Downstream gene id100132594
SNP gene ids
Upstream gene distance82454
Downstream gene distance15272
SNP risk allelers17356907-A
SNPsrs17356907
Merged0
SNP id current17356907
Contextintron_variant
Intergenic1
Allele frequency0.702
P value0.000009
Pvalue mlog5.04575749056067
P value text
Or beta1.09
%95 Ci[1.04-1.12]
PlatformIllumina [NR]
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001930