SNP Detail For rs1372072
1.Mapping Information
Human SNP ID rs1372072
Human chromosome chr3
Human SNP position 16913767
Pig chromosome chr13
Pig SNP position 4291315
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
Region3p24.3
Chromosome idchr3
Chromosome position16913767
Reported genePLCL2
Mapped genePLCL2
Upstream gene id
Downstream gene id
SNP gene ids23228
Upstream gene distance
Downstream gene distance
SNP risk allelers1372072-A
SNPsrs1372072
Merged0
SNP id current1372072
Contextintron_variant
Intergenic0
Allele frequency0.37
P value0.00000002
Pvalue mlog7.69897000433601
P value text
Or beta1.2
%95 Ci[1.12-1.27]
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
Region3p24.3
Chromosome idchr3
Chromosome position16913767
Reported genePLCL2
Mapped genePLCL2
Upstream gene id
Downstream gene id
SNP gene ids23228
Upstream gene distance
Downstream gene distance
SNP risk allelers1372072-A
SNPsrs1372072
Merged0
SNP id current1372072
Contextintron_variant
Intergenic0
Allele frequency0.38
P value0.00000004
Pvalue mlog7.39794000867203
P value text
Or beta1.2
%95 CiNR
PlatformIllumina [1143634] (imputed)
CNVN
Mapped traitprimary biliary cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1001486
Study accessionGCST003129