SNP Detail For rs485499
1.Mapping Information
Human SNP ID rs485499
Human chromosome chr3
Human SNP position 160028076
Pig chromosome chr13
Pig SNP position 108090160
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
Region3q25.33
Chromosome idchr3
Chromosome position160028076
Reported geneIL12A
Mapped geneLINC01100, IL12A-AS1
Upstream gene id
Downstream gene id
SNP gene ids730109, 101928376
Upstream gene distance
Downstream gene distance
SNP risk allelers485499-T
SNPsrs485499
Merged0
SNP id current485499
Contextintron_variant
Intergenic0
Allele frequency0.57
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta1.38
%95 Ci[1.28-1.50]
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
Region3q25.33
Chromosome idchr3
Chromosome position160028076
Reported geneIL12A, SCHIP1
Mapped geneLINC01100, IL12A-AS1
Upstream gene id
Downstream gene id
SNP gene ids730109, 101928376
Upstream gene distance
Downstream gene distance
SNP risk allelers485499-T
SNPsrs485499
Merged0
SNP id current485499
Contextintron_variant
Intergenic0
Allele frequency0.6
P value1E-23
Pvalue mlog23
P value text
Or beta1.4084507
%95 CiNR
PlatformIllumina [1143634] (imputed)
CNVN
Mapped traitprimary biliary cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1001486
Study accessionGCST003129