SNP Detail For rs2069235
1.Mapping Information
Human SNP ID rs2069235
Human chromosome chr22
Human SNP position 39351775
Pig chromosome chr5
Pig SNP position 6194258
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
Region22q13.1
Chromosome idchr22
Chromosome position39351775
Reported geneSYNGR1, PDGFB
Mapped geneSYNGR1
Upstream gene id
Downstream gene id
SNP gene ids9145
Upstream gene distance
Downstream gene distance
SNP risk allelers2069235-A
SNPsrs2069235
Merged
SNP id current2069235
Contextintron_variant
Intergenic0
Allele frequency0.319999999999999
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta1.2658228
%95 CiNR
PlatformIllumina [1143634] (imputed)
CNVN
Mapped traitprimary biliary cirrhosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1001486
Study accessionGCST003129