Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs860413
rs860413
0.925 0.080 5 35942940 upstream gene variant A/C snv 0.23
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 2 2011 2015
dbSNP: rs11064157
rs11064157
1.000 0.080 12 6383483 intron variant A/C snv 0.79
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs137603
rs137603
1.000 0.080 22 39298220 downstream gene variant A/C snv 0.50
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs17033015
rs17033015
1.000 0.080 4 102625147 intergenic variant A/C snv 0.65
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2019 2019
dbSNP: rs9268644
rs9268644
0.827 0.360 6 32440267 intron variant A/C snv 0.68
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs12531711
rs12531711
0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2011 2011
dbSNP: rs582537
rs582537
1.000 0.080 3 159992311 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2012 2017
dbSNP: rs3745516
rs3745516
0.925 0.080 19 50423485 intron variant A/G snv 0.62
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 3 2010 2015
dbSNP: rs3790567
rs3790567
0.851 0.240 1 67356694 intron variant A/G snv 0.61
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 2 2009 2010
dbSNP: rs7665090
rs7665090
0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 2 2011 2012
dbSNP: rs10415976
rs10415976
1.000 0.080 19 941603 intron variant A/G snv 0.18
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs11065987
rs11065987
0.807 0.280 12 111634620 intergenic variant A/G snv 0.29
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
dbSNP: rs12712133
rs12712133
1.000 0.080 2 102249813 downstream gene variant A/G snv 0.57
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
dbSNP: rs1598856
rs1598856
1.000 0.080 4 102524958 intron variant A/G snv 0.61
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs1859308
rs1859308
1.000 0.080 16 27386677 intergenic variant A/G snv 0.88
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
dbSNP: rs2300747
rs2300747
0.882 0.200 1 116561593 intron variant A/G snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs2546890
rs2546890
0.882 0.200 5 159332892 non coding transcript exon variant A/G snv 0.52
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
dbSNP: rs3135363
rs3135363
0.776 0.360 6 32421871 intergenic variant A/G snv 0.24
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2009 2009
dbSNP: rs3732421
rs3732421
1.000 0.080 3 119431242 3 prime UTR variant A/G snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2011 2017
dbSNP: rs4675369
rs4675369
1.000 0.080 2 203778471 upstream gene variant A/G snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs694739
rs694739
0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2012 2012
dbSNP: rs8067378
rs8067378
0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2012 2012
dbSNP: rs9357152
rs9357152
0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.800 1.000 1 2009 2009
dbSNP: rs9501251
rs9501251
0.882 0.200 6 33081886 intron variant A/G snv 4.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs1794280
rs1794280
1.000 0.080 6 32699394 intergenic variant A/T snv 9.8E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2019 2019