SNP Detail For rs6421571
1.Mapping Information
Human SNP ID rs6421571
Human chromosome chr11
Human SNP position 118873063
Pig chromosome chr9
Pig SNP position 51162934
2.Annotation Information
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
Region11q23.3
Chromosome idchr11
Chromosome position118873063
Reported geneCXCR5
Mapped geneDDX6 - CXCR5
Upstream gene id1656
Downstream gene id643
SNP gene ids
Upstream gene distance81800
Downstream gene distance10703
SNP risk allelers6421571-C
SNPsrs6421571
Merged0
SNP id current6421571
Contextregulatory_region_variant
Intergenic1
Allele frequency0.81
P value0.000000000003
Pvalue mlog11.5228787452803
P value text
Or beta1.37
%95 Ci[1.25-1.50]
PlatformIllumina [507467]
CNVN
Mapped traitbiliary liver cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004267
Study accessionGCST001010
PubMed ID26394269
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26394269
StudyInternational genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Disease/TraitPrimary biliary cirrhosis
Initial sample2,764 European ancestry cases, 10,475 European ancestry controls
Replication sample3,716 European ancestry cases, 4,261 European ancestry controls
Region11q23.3
Chromosome idchr11
Chromosome position118873063
Reported geneCXCR5, DDX6�
Mapped geneDDX6 - CXCR5
Upstream gene id1656
Downstream gene id643
SNP gene ids
Upstream gene distance81800
Downstream gene distance10703
SNP risk allelers6421571-C
SNPsrs6421571
Merged0
SNP id current6421571
Contextregulatory_region_variant
Intergenic1
Allele frequency0.8
P value0.0000000000002
Pvalue mlog12.698970004336
P value text
Or beta1.39
%95 CiNR
PlatformIllumina [1143634] (imputed)
CNVN
Mapped traitprimary biliary cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1001486
Study accessionGCST003129