Condition: Primary biliary cirrhosis
rs12494314 in
ARHGAP31 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs10415976 in
ARID3A gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs4938534 in
BTG4;POU2AF1 gene and
Primary biliary cirrhosis
PMID 28062665 2017 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.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs2550374 in
CCDC113 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs510372 in
CCDC88B gene and
Primary biliary cirrhosis
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs12449852 in
CDK12 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs12708715 in
CLEC16A gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs1939697 in
CNTN5 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs11191909 in
COL17A1 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs492899 in
CYP21A2;SKIV2L gene and
Primary biliary cirrhosis
PMID 30854688 2019 Genome-wide Association Studies of Specific Antinuclear Autoantibody Subphenotypes in Primary Biliary Cholangitis.
rs57494551 in
DDX6 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs13300483 in
DELEC1 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs10982445 in
DELEC1;TNFSF8 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs1539414 in
DENND1B gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs11724804 in
DGKQ gene and
Primary biliary cirrhosis
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs9591325 in
DLEU1 gene and
Primary biliary cirrhosis
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs7665590 in
EIF4E gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs35919134 in
EIF4EP2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs6974491 in
ELMO1 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs2297067 in
EXOC3L4 gene and
Primary biliary cirrhosis
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs2302073 in
FBXL20 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs2108166 in
GLI3 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs2832438 in
GRIK1 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs1008723 in
GSDMB gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 22936693 2012 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.
rs9501251 in
HLA-DPA1;HLA-DPB1 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs3128966 in
HLA-DPB1 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs3129887 in
HLA-DRA gene and
Primary biliary cirrhosis
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs10445308 in
IKZF3 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 30643196 2019 POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
PMID 22936693 2012 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.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs1651081 in
IL12A-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 22936693 2012 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.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
rs2366643 in
IL12A-AS1;LINC01100 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs582054 in
IL12A;IL12A-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs10889681 in
IL12RB2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
PMID 22936693 2012 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.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs11556218 in
IL16 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs17005934 in
IL21-AS1 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs2189521 in
IL21R gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs6897932 in
IL7R gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
rs3757387 in
IRF5 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1076222 in
KANSL1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs529556708 in
KANSL1-AS1;KANSL1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs2696633 in
KANSL1;KANSL1-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs17574228 in
KANSL1;MAPT gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs485499 in
LINC01100;IL12A-AS1 gene and
Primary biliary cirrhosis
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs2942167 in
LINC02210-CRHR1;LINC02210 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1631850 in
LINC02210-CRHR1;LOC105371802 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs241041 in
LINC02210;LINC02210-CRHR1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs17252053 in
LINC02820 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs2879258 in
LOC101929578 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs694739 in
LOC102723878 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs4433629 in
LOC105369890;LINC02399 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs1646019 in
LOC105371082;RMI2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 22936693 2012 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.
rs12150111 in
LOC105371800;MAPT gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs12697352 in
LOC105374724 gene and
Primary biliary cirrhosis
PMID 30643196 2019 POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs2034127 in
LOC105377110 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs10843104 in
LOC107984462;LOC105369710 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs6749293 in
LOC107985960 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs1978859 in
LOC107985991;PAX3 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs12603332 in
LOC112268187;ORMDL3;LRRC3C gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs397723 in
LOC284930 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs2546890 in
LOC285626 gene and
Primary biliary cirrhosis
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs199448 in
LRRC37A2;NSF gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs199514 in
LRRC37A2;WNT3 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs11064157 in
LTBR gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1054037 in
MANBA gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs2732715 in
MAPK8IP1P1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs549463181 in
MAPK8IP1P1;MAPK8IP1P2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs10445337 in
MAPT gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs17690703 in
MAPT-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs113161176 in
MAPT-AS1;MAPT;MAPT-IT1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs12185268 in
MAPT-AS1;SPPL2C gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs62056784 in
MAPT-IT1;MAPT gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs111972148 in
MAPT-IT1;MAPT-AS1;MAPT gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs11575895 in
MAPT-IT1;MAPT;MAPT-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs2158257 in
MAPT;KANSL1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs17649641 in
MAPT;LOC105371800 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs113347741 in
MAPT;MAPT-AS1;MAPT-IT1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs62056783 in
MAPT;MAPT-IT1;MAPT-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs62063854 in
MAPT;STH gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs6503513 in
MED1 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs2300747 in
MIR548AC;CD58 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs10931468 in
NAB1 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs1598856 in
NFKB1 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
rs199533 in
NSF;LRRC37A2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs4065275 in
ORMDL3 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1015092 in
PLCB1 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs1372072 in
PLCL2 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs1572037 in
PRDM16 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs3213989 in
PRICKLE1 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs7404928 in
PRKCB gene and
Primary biliary cirrhosis
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
rs11078929 in
PSMD3 gene and
Primary biliary cirrhosis
PMID 22936693 2012 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.
rs2208397 in
RAD51B gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs243318 in
RMI2;LOC105371082 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 22936693 2012 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.
rs188754154 in
RMI2;SOCS1;LOC105371082 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs2014842 in
RPL3 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs538147 in
RPS6KA4 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs10234405 in
SDK1 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs3184504 in
SH2B3;ATXN2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1887276 in
SLC17A8 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs4305775 in
SLC22A23;PSMG4 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs2076125 in
SNORD83A;SNORD83B;RPL3 gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs4780355 in
SOCS1;RMI2;LOC105371082 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1726773 in
SPIB gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs11079725 in
SPPL2C;MAPT-AS1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs41382444 in
STAT1 gene and
Primary biliary cirrhosis
PMID 22936693 2012 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.
rs10168266 in
STAT4 gene and
Primary biliary cirrhosis
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 22936693 2012 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.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs1078268 in
STH;MAPT gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs2049985 in
SYNGR1 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 22936693 2012 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.
rs1131265 in
TIMMDC1 gene and
Primary biliary cirrhosis
PMID 22936693 2012 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.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 30643196 2019 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.
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
rs1132200 in
TMEM39A gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs1800693 in
TNFRSF1A gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs4979462 in
TNFSF15 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
PMID 28062665 2017 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.
PMID 30643196 2019 POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
rs3181372 in
TNFSF8;DELEC1 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs10488631 in
TNPO3 gene and
Primary biliary cirrhosis
PMID 22936693 2012 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.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
rs17447439 in
TP63 gene and
Primary biliary cirrhosis
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs2395148 in
TSBP1;TSBP1-AS1 gene and
Primary biliary cirrhosis
PMID 19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
rs2304256 in
TYK2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
rs199505 in
WNT3;LRRC37A2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
rs1054609 in
ZPBP2 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 22936693 2012 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.