Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4979462
rs4979462
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
0.830 GeneticVariation BEFREE 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
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
0.830 GeneticVariation BEFREE Using genetic data from published studies on CD, PBC and leprosy we revealed that bearing a T allele at rs6478108/rs6478109 (r(2) = 1) or rs4979462 was significantly associated with increased risk of CD and decreased risk of leprosy, while the T allele at rs4979462 was associated with significantly increased risk of PBC. 27507062

2016

dbSNP: rs4979462
rs4979462
0.830 GeneticVariation BEFREE Moreover, higher endogenous TNFSF15 protein and mRNA expression levels were observed in individuals with the PBC-susceptible allele of rs4979462. 25899471

2015

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

2012

dbSNP: rs2293370
rs2293370
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
0.810 GeneticVariation BEFREE 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
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
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
0.810 GeneticVariation BEFREE 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
G 0.810 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015

dbSNP: rs7574865
rs7574865
0.810 GeneticVariation BEFREE We detected significant associations with PBC susceptibility for several STAT4 SNPs (rs10168266; P = 9.4 × 10(-3), rs11889341; P = 1.2 × 10(-3), rs7574865; P = 4.0 × 10(-4), rs8179673; P = 2.0 × 10(-4), and rs10181656; P = 4.2 × 10(-5)). 24648611

2014

dbSNP: rs2293370
rs2293370
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
0.810 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs2293370
rs2293370
G 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs2293370
rs2293370
C 0.810 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012

dbSNP: rs2293370
rs2293370
0.810 GeneticVariation GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693

2012

dbSNP: rs4938534
rs4938534
A 0.810 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012

dbSNP: rs4938534
rs4938534
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
A 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012

dbSNP: rs7574865
rs7574865
T 0.810 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012

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

2012