SNP Detail For rs12722489
1.Mapping Information
Human SNP ID rs12722489
Human chromosome chr10
Human SNP position 6060049
Pig chromosome chr10
Pig SNP position 71065902
2.Annotation Information
PubMed ID17660530
JournalN Engl J Med
Linkwww.ncbi.nlm.nih.gov/pubmed/17660530
StudyRisk alleles for multiple sclerosis identified by a genomewide study.
Disease/TraitMultiple sclerosis
Initial sample931 European ancestry trios, 2,431 European ancestry controls
Replication sample609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls
Region10p15.1
Chromosome idchr10
Chromosome position6060049
Reported geneIL2RA
Mapped geneIL2RA
Upstream gene id
Downstream gene id
SNP gene ids3559
Upstream gene distance
Downstream gene distance
SNP risk allelers12722489-C
SNPsrs12722489
Merged0
SNP id current12722489
Contextintron_variant
Intergenic0
Allele frequency0.85
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta1.25
%95 Ci[1.11-1.36]
PlatformAffymetrix [334923]
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST000062
PubMed ID22190364
JournalAnn Neurol
Linkwww.ncbi.nlm.nih.gov/pubmed/22190364
StudyGenome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
Disease/TraitMultiple sclerosis
Initial sample5,545 European ancestry cases, 12,153 European ancestry controls
Replication sampleNA
Region10p15.1
Chromosome idchr10
Chromosome position6060049
Reported geneIL2RA
Mapped geneIL2RA
Upstream gene id
Downstream gene id
SNP gene ids3559
Upstream gene distance
Downstream gene distance
SNP risk allelers12722489-C
SNPsrs12722489
Merged0
SNP id current12722489
Contextintron_variant
Intergenic0
Allele frequency0.85
P value0.00000004
Pvalue mlog7.39794000867203
P value text
Or beta1.23
%95 Ci[NR]
PlatformAffymetrix, Illumina [2529394]
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST001341
PubMed ID21102463
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21102463
StudyGenome-wide meta-analysis increases to 71 the number of confirmed Crohn__s disease susceptibility loci.
Disease/TraitCrohn__s disease
Initial sample6,333 European ancestry cases, 15,056 European ancestry controls
Replication sample15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios
Region10p15.1
Chromosome idchr10
Chromosome position6060049
Reported geneIL2RA
Mapped geneIL2RA
Upstream gene id
Downstream gene id
SNP gene ids3559
Upstream gene distance
Downstream gene distance
SNP risk allelers12722489-C
SNPsrs12722489
Merged0
SNP id current12722489
Contextintron_variant
Intergenic0
Allele frequency0.852
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta1.11
%95 Ci[1.05-1.16]
PlatformAffymetrix, Illumina [953241] (imputed)
CNVN
Mapped traitCrohn__s disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000384
Study accessionGCST000879