SPIB, Spi-B transcription factor, 6689

N. diseases: 58; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269 2015
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASDB Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
dbSNP: rs1726773
rs1726773
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0023892
Disease:
Biliary cirrhosis 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs3745516
rs3745516
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0023892
Disease:
Biliary cirrhosis 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
dbSNP: rs777018011
rs777018011
Entrez Id: 5424;6689
Gene Symbol: POLD1;SPIB
POLD1;SPIB
CUI: C0024312
Disease:
Lymphopenia 		0.010 GeneticVariation BEFREE We identified a missense mutation (c. 3178C>T; p.R1060C) in POLD1 in 3 related subjects who presented with recurrent, especially herpetic, infections and T-cell lymphopenia with impaired T-cell but not B-cell proliferation. 31629014 2020
dbSNP: rs34944112
rs34944112
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE Fine mapping identified 26 SNPs across the CLEC16A-SOCS1 and 11 SNPs across the SPIB locus with significant association to PBC, the strongest signals at the CLEC16A-SOCS1 locus emanating from a SOCS1 intergenic SNP (rs243325; P=9.91 × 10(-9)) and at the SPIB locus from a SPIB intronic SNP (rs34944112; P=3.65 × 10(-9)). 22257840 2012