SNP Detail For rs3024493
1.Mapping Information
Human SNP ID rs3024493
Human chromosome chr1
Human SNP position 206770623
Pig chromosome chr9
Pig SNP position 73760444
2.Annotation Information
PubMed ID19915572
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19915572
StudyGenome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
Disease/TraitUlcerative colitis
Initial sample2,361 European ancestry cases, 5,417 European ancestry controls
Replication sample2,321 European ancestry cases, 4,818 European ancestry controls
Region1q32.1
Chromosome idchr1
Chromosome position206770623
Reported geneIL10
Mapped geneIL10
Upstream gene id
Downstream gene id
SNP gene ids3586
Upstream gene distance
Downstream gene distance
SNP risk allelers3024493-?
SNPsrs3024493
Merged0
SNP id current3024493
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000008
Pvalue mlog7.09691001300805
P value text
Or beta
%95 Ci
PlatformAffymetrix [NR]
CNVN
Mapped traitulcerative colitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000729
Study accessionGCST000527
PubMed ID20228798
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20228798
StudyGenome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
Disease/TraitUlcerative colitis
Initial sample1,043 European ancestry cases, 1,703 European ancestry controls
Replication sample2,539 European ancestry cases, 5,428 European ancestry controls
Region1q32.1
Chromosome idchr1
Chromosome position206770623
Reported geneIL10
Mapped geneIL10
Upstream gene id
Downstream gene id
SNP gene ids3586
Upstream gene distance
Downstream gene distance
SNP risk allelers3024493-T
SNPsrs3024493
Merged0
SNP id current3024493
Contextintron_variant
Intergenic0
Allele frequency0.16
P value0.000000000001
Pvalue mlog12
P value text
Or beta1.35
%95 Ci[1.22-1.50]
PlatformAffymetrix [1897764] (imputed)
CNVN
Mapped traitulcerative colitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000729
Study accessionGCST000623
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
Region1q32.1
Chromosome idchr1
Chromosome position206770623
Reported geneNR
Mapped geneIL10
Upstream gene id
Downstream gene id
SNP gene ids3586
Upstream gene distance
Downstream gene distance
SNP risk allelers3024493-?
SNPsrs3024493
Merged0
SNP id current3024493
Contextintron_variant
Intergenic0
Allele frequencyNR
P value2E-50
Pvalue mlog49.698970004336
P value text(EA)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 9000000] (imputed)
CNVN
Mapped traitinflammatory bowel disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003767
Study accessionGCST003043
PubMed ID26502338
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26502338
StudyGenetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Disease/TraitSystemic lupus erythematosus
Initial sample5,201 European ancestry cases, 9,066 European ancestry controls
Replication sampleNA
Region1q32.1
Chromosome idchr1
Chromosome position206770623
Reported geneIL10
Mapped geneIL10
Upstream gene id
Downstream gene id
SNP gene ids3586
Upstream gene distance
Downstream gene distance
SNP risk allelers3024493-A
SNPsrs3024493
Merged0
SNP id current3024493
Contextintron_variant
Intergenic0
Allele frequency
P value0.00000006
Pvalue mlog7.22184874961635
P value text
Or beta1.2
%95 Ci[NR]
PlatformIllumina [> 644674] (imputed)
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST003156