SNP Detail For rs1569723
1.Mapping Information
Human SNP ID rs1569723
Human chromosome chr20
Human SNP position 46113425
Pig chromosome chr17
Pig SNP position 53928056
2.Annotation Information
PubMed ID22446961
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22446961
StudyTwo new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
Disease/TraitKawasaki disease
Initial sample622 Han Chinese ancestry cases, 1,107 Han Chinese ancestry controls
Replication sample261 Han Chinese ancestry cases, 550 Han Chinese ancestry controls
Region20q13.12
Chromosome idchr20
Chromosome position46113425
Reported geneCD40
Mapped geneNCOA5 - CD40
Upstream gene id57727
Downstream gene id958
SNP gene ids
Upstream gene distance23473
Downstream gene distance4825
SNP risk allelers1569723-A
SNPsrs1569723
Merged0
SNP id current1569723
Contextupstream_gene_variant
Intergenic1
Allele frequency0.548
P value0.000000006
Pvalue mlog8.22184874961635
P value text
Or beta1.415
%95 Ci[1.256-1.594]
PlatformAffymetrix [716935]
CNVN
Mapped traitmucocutaneous lymph node syndrome
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004246
Study accessionGCST001456
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
Region20q13.12
Chromosome idchr20
Chromosome position46113425
Reported geneCD40, MMP9, PLTP
Mapped geneNCOA5 - CD40
Upstream gene id57727
Downstream gene id958
SNP gene ids
Upstream gene distance23473
Downstream gene distance4825
SNP risk allelers1569723-C
SNPsrs1569723
Merged0
SNP id current1569723
Contextupstream_gene_variant
Intergenic1
Allele frequency0.259
P value0.0000000000001
Pvalue mlog13
P value text
Or beta1.091
%95 Ci[1.056-1.126]
PlatformAffymetrix, Illumina [1230000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST001725