rs3745516
This is a intron variant variant in the SPIB gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
primary biliary cirrhosis
Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele A
OR 0.27
p 3.0e-30
N 24,510
Meta-analysisLarge GWAS
European
Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele A
OR 1.39
p 1.0e-20
N 13,239
Meta-analysisLarge GWAS
European
biliary liver cirrhosis
Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)
Allele A
OR 1.38
p 2.0e-13
N 7,003
Large GWAS
European
Liu X et al. “Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.” Nature Genetics 42(8):658-60 (2010)
Allele A
OR 1.46
p 8.0e-11
N 1,398
Large GWAS
European
About SPIB
The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
View all SPIB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…