SNP Detail For rs911263
1.Mapping Information
Human SNP ID rs911263
Human chromosome chr14
Human SNP position 68286876
Pig chromosome chr7
Pig SNP position 98317302
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
Region14q24.1
Chromosome idchr14
Chromosome position68286876
Reported geneRAD51L1
Mapped geneRAD51B
Upstream gene id
Downstream gene id
SNP gene ids5890
Upstream gene distance
Downstream gene distance
SNP risk allelers911263-T
SNPsrs911263
Merged0
SNP id current911263
Contextintron_variant
Intergenic0
Allele frequency0.71
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta1.29
%95 Ci[1.20-1.39]
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
Region14q24.1
Chromosome idchr14
Chromosome position68286876
Reported geneRAD51L1, RAD51B
Mapped geneRAD51B
Upstream gene id
Downstream gene id
SNP gene ids5890
Upstream gene distance
Downstream gene distance
SNP risk allelers911263-T
SNPsrs911263
Merged0
SNP id current911263
Contextintron_variant
Intergenic0
Allele frequency0.73
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta1.24
%95 CiNR
PlatformIllumina [1143634] (imputed)
CNVN
Mapped traitprimary biliary cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1001486
Study accessionGCST003129