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: 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: 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: 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: rs11556218
rs11556218
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs11724804
rs11724804
0.882 0.160 4 971991 intron variant G/A snv 0.43
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
dbSNP: rs12697352
rs12697352
0.925 0.120 5 35837132 regulatory region variant G/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2019 2019
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: 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: 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: rs17005934
rs17005934
1.000 0.080 4 122628544 intron variant T/C snv 9.2E-02
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: rs17129789
rs17129789
0.925 0.080 1 67324915 intron variant T/C snv 0.17
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2011 2011
dbSNP: rs17641524
rs17641524
0.925 0.120 1 197735587 splice region variant C/G;T snv 4.0E-06; 0.17
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
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
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: rs2069235
rs2069235
1.000 0.080 22 39351775 intron variant G/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2015 2015
dbSNP: rs2189521
rs2189521
1.000 0.080 16 27402245 5 prime UTR variant C/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
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: rs230534
rs230534
0.882 0.120 4 102527884 intron variant T/C snv 0.73
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: rs2550374
rs2550374
1.000 0.080 16 58220544 downstream gene variant G/T snv 0.70
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs3129887
rs3129887
0.925 0.200 6 32442914 intron variant G/A snv 0.13
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs4149576
rs4149576
0.882 0.200 12 6339949 intron variant C/T snv 0.32
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 2017
dbSNP: rs4305775
rs4305775
1.000 0.080 6 3296763 intron variant G/T snv 0.87
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2017 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