SNP Detail For rs4976646
1.Mapping Information
Human SNP ID rs4976646
Human chromosome chr5
Human SNP position 177361569
Pig chromosome chr2
Pig SNP position 82282030
2.Annotation Information
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
Region5q35.3
Chromosome idchr5
Chromosome position177361569
Reported geneNR
Mapped geneRGS14
Upstream gene id
Downstream gene id
SNP gene ids10636
Upstream gene distance
Downstream gene distance
SNP risk allelers4976646-G
SNPsrs4976646
Merged
SNP id current4976646
Contextintron_variant
Intergenic0
Allele frequency0.3415
P value0.000000003
Pvalue mlog8.52287874528033
P value text(EA)
Or beta1.0819606
%95 Ci[1.06-1.11]
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/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
Region5q35.3
Chromosome idchr5
Chromosome position177361569
Reported geneNR
Mapped geneRGS14
Upstream gene id
Downstream gene id
SNP gene ids10636
Upstream gene distance
Downstream gene distance
SNP risk allelers4976646-G
SNPsrs4976646
Merged
SNP id current4976646
Contextintron_variant
Intergenic0
Allele frequency0.3415
P value0.00000003
Pvalue mlog7.52287874528033
P value text(EA)
Or beta1.0721266
%95 Ci[1.05-1.1]
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
Region5q35.3
Chromosome idchr5
Chromosome position177361569
Reported geneNR
Mapped geneRGS14
Upstream gene id
Downstream gene id
SNP gene ids10636
Upstream gene distance
Downstream gene distance
SNP risk allelers4976646-G
SNPsrs4976646
Merged
SNP id current4976646
Contextintron_variant
Intergenic0
Allele frequency0.3415
P value0.000000000003
Pvalue mlog11.5228787452803
P value text(EA)
Or beta1.0757427
%95 Ci[1.06-1.1]
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043