SNP Detail For rs12994997
1.Mapping Information
Human SNP ID rs12994997
Human chromosome chr2
Human SNP position 233264857
Pig chromosome chr15
Pig SNP position 147708940
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/TraitCrohn__s disease
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
Region2q37.1
Chromosome idchr2
Chromosome position233264857
Reported geneINPP5D, ATG16L1
Mapped geneATG16L1
Upstream gene id
Downstream gene id
SNP gene ids55054
Upstream gene distance
Downstream gene distance
SNP risk allelers12994997-A
SNPsrs12994997
Merged0
SNP id current12994997
Contextintron_variant
Intergenic0
Allele frequency0.523
P value4E-70
Pvalue mlog69.397940008672
P value text
Or beta1.233
%95 Ci[1.193-1.274]
PlatformAffymetrix, Illumina [1230000] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST001729
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
Region2q37.1
Chromosome idchr2
Chromosome position233264857
Reported geneNR
Mapped geneATG16L1
Upstream gene id
Downstream gene id
SNP gene ids55054
Upstream gene distance
Downstream gene distance
SNP risk allelers12994997-A
SNPsrs12994997
Merged0
SNP id current12994997
Contextintron_variant
Intergenic0
Allele frequency0.53
P value3E-41
Pvalue mlog40.5228787452803
P value text(EA)
Or beta1.1429542
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043