SNP Detail For rs1847472
1.Mapping Information
Human SNP ID rs1847472
Human chromosome chr6
Human SNP position 90263440
Pig chromosome chr1
Pig SNP position 65241289
2.Annotation Information
PubMed ID21102463
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21102463
StudyGenome-wide meta-analysis increases to 71 the number of confirmed Crohn__s disease susceptibility loci.
Disease/TraitCrohn__s disease
Initial sample6,333 European ancestry cases, 15,056 European ancestry controls
Replication sample15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios
Region6q15
Chromosome idchr6
Chromosome position90263440
Reported geneBACH2
Mapped geneBACH2
Upstream gene id
Downstream gene id
SNP gene ids60468
Upstream gene distance
Downstream gene distance
SNP risk allelers1847472-G
SNPsrs1847472
Merged0
SNP id current1847472
Contextintron_variant
Intergenic0
Allele frequency0.658
P value0.000000005
Pvalue mlog8.30102999566398
P value text
Or beta1.07
%95 Ci[1.03-1.11]
PlatformAffymetrix, Illumina [953241] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST000879
PubMed ID23128233
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/23128233
StudyHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Disease/TraitInflammatory bowel disease
Initial sample12,924 European ancestry cases, 21,442 European ancestry controls
Replication sample25,683 European ancestry cases, 17,015 European ancestry controls
Region6q15
Chromosome idchr6
Chromosome position90263440
Reported geneintergenic
Mapped geneBACH2
Upstream gene id
Downstream gene id
SNP gene ids60468
Upstream gene distance
Downstream gene distance
SNP risk allelers1847472-C
SNPsrs1847472
Merged0
SNP id current1847472
Contextintron_variant
Intergenic0
Allele frequency0.655
P value0.0000000002
Pvalue mlog9.69897000433601
P value text
Or beta1.06
%95 Ci[1.029-1.092]
PlatformAffymetrix, Illumina [1230000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST001725
PubMed ID26192919
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26192919
StudyAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Disease/TraitCrohn__s disease
Initial sample5,956 European ancestry cases, 14,927 European ancestry controls
Replication sample14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region6q15
Chromosome idchr6
Chromosome position90263440
Reported geneNR
Mapped geneBACH2
Upstream gene id
Downstream gene id
SNP gene ids60468
Upstream gene distance
Downstream gene distance
SNP risk allelers1847472-A
SNPsrs1847472
Merged0
SNP id current1847472
Contextintron_variant
Intergenic0
Allele frequency0.66
P value0.0000000001
Pvalue mlog10
P value text(EA)
Or beta1.0891367
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST003044
PubMed ID26192919
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26192919
StudyAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Disease/TraitInflammatory bowel disease
Initial sample12,882 European ancestry cases, 21,770 European ancestry controls
Replication sample25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region6q15
Chromosome idchr6
Chromosome position90263440
Reported geneNR
Mapped geneBACH2
Upstream gene id
Downstream gene id
SNP gene ids60468
Upstream gene distance
Downstream gene distance
SNP risk allelers1847472-C
SNPsrs1847472
Merged0
SNP id current1847472
Contextintron_variant
Intergenic0
Allele frequency0.66
P value0.0000000007
Pvalue mlog9.15490195998574
P value text(EA)
Or beta1.0695955
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043