SNP Detail For rs526231
1.Mapping Information
Human SNP ID rs526231
Human chromosome chr5
Human SNP position 103345680
Pig chromosome chr2
Pig SNP position 112994592
2.Annotation Information
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
Region5q21.1
Chromosome idchr5
Chromosome position103345680
Reported genePAM, EIF3KP1, GIN1, PPIP5K2, C5orf30
Mapped geneC5orf30 - LOC105379197
Upstream gene id90355
Downstream gene id105379197
SNP gene ids
Upstream gene distance67020
Downstream gene distance86779
SNP risk allelers526231-C
SNPsrs526231
Merged
SNP id current526231
Contextintergenic_variant
Intergenic1
Allele frequency
P value0.00000001
Pvalue mlog8
P value text
Or beta1.1494253
%95 Ci[1.08-1.23]
PlatformIllumina [1143634] (imputed)
CNVN
Mapped traitprimary biliary cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1001486
Study accessionGCST003129