SNP Detail For rs12134279
1.Mapping Information
Human SNP ID rs12134279
Human chromosome chr1
Human SNP position 197812068
Pig chromosome chr10
Pig SNP position 25260471
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
Region1q31.3
Chromosome idchr1
Chromosome position197812068
Reported geneDENND1B
Mapped geneDENND1B - C1orf53
Upstream gene id163486
Downstream gene id388722
SNP gene ids
Upstream gene distance29893
Downstream gene distance90484
SNP risk allelers12134279-T
SNPsrs12134279
Merged0
SNP id current12134279
Contextintergenic_variant
Intergenic1
Allele frequency0.2
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta1.34
%95 Ci[1.25-1.45]
PlatformIllumina [507467]
CNVN
Mapped traitbiliary liver cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004267
Study accessionGCST001010