SNP Detail For rs2310173
1.Mapping Information
Human SNP ID rs2310173
Human chromosome chr2
Human SNP position 102047167
Pig chromosome chr3
Pig SNP position 54882629
2.Annotation Information
PubMed ID21297633
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21297633
StudyMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Disease/TraitUlcerative colitis
Initial sample6,687 European ancestry cases, 19,718 European ancestry controls
Replication sample9,628 European ancestry cases, 12,917 European ancestry controls
Region2q11.2
Chromosome idchr2
Chromosome position102047167
Reported geneIL1R2
Mapped geneIL1R2 - LOC105373515
Upstream gene id7850
Downstream gene id105373515
SNP gene ids
Upstream gene distance18623
Downstream gene distance16639
SNP risk allelers2310173-T
SNPsrs2310173
Merged0
SNP id current2310173
Contextregulatory_region_variant
Intergenic1
Allele frequency0.46
P value0.000000000003
Pvalue mlog11.5228787452803
P value text
Or beta1.09
%95 Ci[1.05-1.14]
PlatformAffymetrix, Illumina [~ 1100000] (imputed)
CNVN
Mapped traitulcerative colitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000729
Study accessionGCST000964
PubMed ID20062062
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20062062
StudyGenome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
Disease/TraitAnkylosing spondylitis
Initial sample2,053 European ancestry cases, 5,140 European ancestry controls
Replication sample898 European ancestry cases, 1,518 European ancestry controls
Region2q11.2
Chromosome idchr2
Chromosome position102047167
Reported geneIL1R2
Mapped geneIL1R2 - LOC105373515
Upstream gene id7850
Downstream gene id105373515
SNP gene ids
Upstream gene distance18623
Downstream gene distance16639
SNP risk allelers2310173-A
SNPsrs2310173
Merged0
SNP id current2310173
Contextregulatory_region_variant
Intergenic1
Allele frequency0.45
P value0.0000005
Pvalue mlog6.30102999566398
P value text
Or beta1.18
%95 Ci[1.10-1.27]
PlatformIllumina [288662]
CNVN
Mapped traitankylosing spondylitis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003898
Study accessionGCST000563
PubMed ID23453885
JournalLancet
Linkwww.ncbi.nlm.nih.gov/pubmed/23453885
StudyIdentification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Disease/TraitAutism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)
Initial sample6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder tr
Replication sampleNA
Region2q11.2
Chromosome idchr2
Chromosome position102047167
Reported geneMAP4K4, IL1R2
Mapped geneIL1R2 - LOC105373515
Upstream gene id7850
Downstream gene id105373515
SNP gene ids
Upstream gene distance18623
Downstream gene distance16639
SNP risk allelers2310173-T
SNPsrs2310173
Merged0
SNP id current2310173
Contextregulatory_region_variant
Intergenic1
Allele frequency
P value0.000003
Pvalue mlog5.52287874528033
P value text(Modelling analysis)
Or beta1.06
%95 Ci[1.03-1.08]
PlatformNR [1252901] (imputed)
CNVN
Mapped traitattention deficit hyperactivity disorder, unipolar depression, schizophrenia, autism spectrum disorder, bipolar disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003888, http://www.ebi.ac.uk/efo/EFO_0003761, http://www.ebi.ac.uk/efo/EFO_0000692, http://www.ebi.ac.uk/efo/EFO_0003756, http://www.ebi.ac.uk/efo/EFO_0000289
Study accessionGCST001877