SNP Detail For rs483905
1.Mapping Information
Human SNP ID rs483905
Human chromosome chr11
Human SNP position 96290263
Pig chromosome chr9
Pig SNP position 32289751
2.Annotation Information
PubMed ID23128233
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/23128233
StudyHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Disease/TraitUlcerative colitis
Initial sampleUp to 12,924 European ancestry cases, up to 21,442 European ancestry controls
Replication sampleUp to 25,683 European ancestry cases, up to 17,015 European ancestry controls
Region11q21
Chromosome idchr11
Chromosome position96290263
Reported geneMAML2, JRKL
Mapped geneMAML2
Upstream gene id
Downstream gene id
SNP gene ids84441
Upstream gene distance
Downstream gene distance
SNP risk allelers483905-A
SNPsrs483905
Merged0
SNP id current483905
Contextintron_variant
Intergenic0
Allele frequency0.292
P value0.00000001
Pvalue mlog8
P value text
Or beta1.056
%95 Ci[1.017-1.096]
PlatformAffymetrix, Illumina [1230000] (imputed)
CNVN
Mapped traitulcerative colitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000729
Study accessionGCST001728
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/TraitUlcerative colitis
Initial sample6,968 European ancestry cases, 20,464 European ancestry controls
Replication sample10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls
Region11q21
Chromosome idchr11
Chromosome position96290263
Reported geneNR
Mapped geneMAML2
Upstream gene id
Downstream gene id
SNP gene ids84441
Upstream gene distance
Downstream gene distance
SNP risk allelers483905-A
SNPsrs483905
Merged0
SNP id current483905
Contextintron_variant
Intergenic0
Allele frequency0.289
P value0.0000000003
Pvalue mlog9.52287874528033
P value text(EA)
Or beta1.0887091
%95 Ci[1.06-1.12]
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitulcerative colitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000729
Study accessionGCST003045
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
Region11q21
Chromosome idchr11
Chromosome position96290263
Reported geneNR
Mapped geneMAML2
Upstream gene id
Downstream gene id
SNP gene ids84441
Upstream gene distance
Downstream gene distance
SNP risk allelers483905-A
SNPsrs483905
Merged0
SNP id current483905
Contextintron_variant
Intergenic0
Allele frequency0.289
P value0.00000007
Pvalue mlog7.15490195998574
P value text(EA)
Or beta1.0595956
%95 Ci[1.04-1.08]
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043