Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4979462
rs4979462
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.830 GeneticVariation GWASCAT POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. 30643196

2019
dbSNP: rs4979462
rs4979462
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		C 0.830 GeneticVariation GWASCAT A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. 28062665

2017
dbSNP: rs4979462
rs4979462
TNFSF15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		T 0.830 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
dbSNP: rs2293370
rs2293370
TIMMDC1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.810 GeneticVariation GWASCAT This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC. 30643196

2019
dbSNP: rs2293370
rs2293370
TIMMDC1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.810 GeneticVariation GWASCAT Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. 28062665

2017
dbSNP: rs2293370
rs2293370
TIMMDC1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.810 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs2293370
rs2293370
TIMMDC1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs2293370
rs2293370
TIMMDC1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		C 0.810 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
dbSNP: rs2293370
rs2293370
TIMMDC1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.810 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011
dbSNP: rs4938534
rs4938534
POU2AF1 ; BTG4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.810 GeneticVariation GWASCAT A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. 28062665

2017
dbSNP: rs4938534
rs4938534
POU2AF1 ; BTG4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.810 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
dbSNP: rs7574865
rs7574865
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs7574865
rs7574865
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		T 0.810 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
dbSNP: rs7574865
rs7574865
STAT4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		C 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs10488631
rs10488631
TNPO3
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		C 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs10488631
rs10488631
TNPO3
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		C 0.800 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880

2010
dbSNP: rs10488631
rs10488631
TNPO3
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.800 GeneticVariation GWASCAT Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352

2009
dbSNP: rs1054037
rs1054037
MANBA
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		T 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs10931468
rs10931468
NAB1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011
dbSNP: rs11065979
rs11065979
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs11117432
rs11117432
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011
dbSNP: rs11117433
rs11117433
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.800 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs12134279
rs12134279
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		T 0.800 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011
dbSNP: rs12531711
rs12531711
TNPO3
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011
dbSNP: rs12708715
rs12708715
CLEC16A
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		A 0.800 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012