Source: GWASCAT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4979462
rs4979462
TNFSF15
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
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
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
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
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: rs4938534
rs4938534
POU2AF1 ; BTG4
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: rs2293370
rs2293370
TIMMDC1
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
G 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs2293370
rs2293370
TIMMDC1
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: rs4938534
rs4938534
POU2AF1 ; BTG4
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
A 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

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

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

2011
dbSNP: rs3732421
rs3732421
TMEM39A
0.800 GeneticVariation GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483

2017
dbSNP: rs582537
rs582537
IL12A ; IL12A-AS1
0.800 GeneticVariation GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483

2017
dbSNP: rs6897932
rs6897932
IL7R
T 0.800 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: rs9303277
rs9303277
IKZF3
T 0.800 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: rs10488631
rs10488631
TNPO3
C 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs1054037
rs1054037
MANBA
T 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs12924729
rs12924729
CLEC16A
G 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs1372072
rs1372072
PLCL2
A 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs1800693
rs1800693
TNFRSF1A
C 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs2297067
rs2297067
EXOC3L4
T 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs2304256
rs2304256
TYK2
C 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015