SNP Detail For rs4784227
1.Mapping Information
Human SNP ID rs4784227
Human chromosome chr16
Human SNP position 52565276
Pig chromosome chr6
Pig SNP position 29286506
2.Annotation Information
PubMed ID20585626
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20585626
StudyIdentification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium.
Disease/TraitBreast cancer
Initial sample2,073 Chinese ancestry cases, 2,084 Chinese ancestry controls
Replication sample15,159 East Asian ancestry cases, 12,993 East Asian ancestry controls, 2,797 European ancestry cases, 2,662 European ancestry controls
Region16q12.1
Chromosome idchr16
Chromosome position52565276
Reported geneTOX3
Mapped geneCASC16
Upstream gene id
Downstream gene id
SNP gene ids643714
Upstream gene distance
Downstream gene distance
SNP risk allelers4784227-T
SNPsrs4784227
Merged0
SNP id current4784227
Contextintron_variant
Intergenic0
Allele frequency0.24
P value1E-28
Pvalue mlog28
P value text(all races combined)
Or beta1.24
%95 Ci[1.20-1.29]
PlatformAffymetrix [684457]
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST000709
PubMed ID25327703
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25327703
StudyGenome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.
Disease/TraitBreast cancer
Initial sample1,497 Latino cases, 3,213 Latino controls
Replication sample1,643 Latino cases, 4,971 Latino controls
Region16q12.1
Chromosome idchr16
Chromosome position52565276
Reported geneTOX3
Mapped geneCASC16
Upstream gene id
Downstream gene id
SNP gene ids643714
Upstream gene distance
Downstream gene distance
SNP risk allelers4784227-T
SNPsrs4784227
Merged0
SNP id current4784227
Contextintron_variant
Intergenic0
Allele frequency0.31
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta1.38
%95 Ci[1.24-1.54]
PlatformAffymetrix, Illumina [7229558] (imputed)
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST002662