SNP Detail For rs538147
1.Mapping Information
Human SNP ID rs538147
Human chromosome chr11
Human SNP position 64362250
Pig chromosome chr2
Pig SNP position 7016175
2.Annotation Information
PubMed ID22019778
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22019778
StudyIdentification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
Disease/TraitLeprosy
Initial sample706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls
Replication sample3,301 Han Chinese ancestry cases, 5,299 Han Chinese ancestry controls
Region11q13.1
Chromosome idchr11
Chromosome position64362250
Reported geneRPS6KA4
Mapped geneRPS6KA4
Upstream gene id
Downstream gene id
SNP gene ids8986
Upstream gene distance
Downstream gene distance
SNP risk allelers538147-A
SNPsrs538147
Merged0
SNP id current538147
Contextintron_variant
Intergenic0
Allele frequency0.23
P value0.000007
Pvalue mlog5.15490195998574
P value text
Or beta1.17
%95 Ci[1.09-1.25]
PlatformNR [1701673] (imputed)
CNVN
Mapped traitleprosy
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001054
Study accessionGCST001292
PubMed ID21399635
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21399635
StudyGenome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Disease/TraitPrimary biliary cirrhosis
Initial sample1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)
Replication sample620 European ancestry cases, 2,514 European ancestry controls
Region11q13.1
Chromosome idchr11
Chromosome position64362250
Reported geneRPS6KA4
Mapped geneRPS6KA4
Upstream gene id
Downstream gene id
SNP gene ids8986
Upstream gene distance
Downstream gene distance
SNP risk allelers538147-G
SNPsrs538147
Merged0
SNP id current538147
Contextintron_variant
Intergenic0
Allele frequency0.61
P value0.0000000002
Pvalue mlog9.69897000433601
P value text
Or beta1.23
%95 Ci[1.15-1.31]
PlatformIllumina [507467]
CNVN
Mapped traitbiliary liver cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004267
Study accessionGCST001010