Source: GWASCAT

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: rs3790567
rs3790567
IL12RB2
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: rs12134279
rs12134279 		0.925 0.080 1 197812068 regulatory region variant C/T snv 0.17
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
dbSNP: rs17129789
rs17129789
IL12RB2
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
DENND1B
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: rs2300747
rs2300747
CD58 ; MIR548AC
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: rs2488393
rs2488393
DENND1B
1.000 0.080 1 197753110 intron variant C/T snv 0.23
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs6679356
rs6679356
IL12RB2
0.925 0.200 1 67354511 intron variant C/T snv 0.75
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2015 2015
dbSNP: rs72678531
rs72678531
IL12RB2
1.000 0.080 1 67332762 intron variant T/C snv 0.17
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.810 1.000 2 2012 2014
dbSNP: rs10168266
rs10168266
STAT4
0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.710 1.000 1 2014 2017
dbSNP: rs10931468
rs10931468
NAB1
0.925 0.080 2 190673836 intron variant C/A;G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
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: rs3024921
rs3024921
STAT4
0.925 0.120 2 191078546 intron variant A/T snv 3.6E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs3771317
rs3771317
NAB1
1.000 0.080 2 190679236 intron variant T/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2015
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: rs4952108
rs4952108 		1.000 0.080 2 30206869 upstream gene variant C/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2015
dbSNP: rs4973341
rs4973341 		1.000 0.080 2 227795646 intergenic variant C/T snv 0.67
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2015 2015
dbSNP: rs2293370
rs2293370
TIMMDC1
0.882 0.160 3 119501087 intron variant G/A snv 0.18
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.810 1.000 6 2011 2019
dbSNP: rs1372072
rs1372072
PLCL2
0.851 0.200 3 16913767 intron variant G/A snv 0.35
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 2 2011 2015
dbSNP: rs485499
rs485499
LINC01100 ; IL12A-AS1
0.925 0.080 3 160028076 intron variant T/C snv 0.29
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 2 2011 2015
dbSNP: rs6441286
rs6441286
IL12A-AS1
0.925 0.080 3 160011091 intron variant T/G snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 2 2009 2010
dbSNP: rs2366643
rs2366643
LINC01100 ; IL12A-AS1
1.000 0.080 3 160018698 intron variant T/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs3732421
rs3732421
TMEM39A
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: rs4679904
rs4679904 		0.925 0.080 3 160623108 intergenic variant C/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2009 2009
dbSNP: rs582537
rs582537
IL12A ; IL12A-AS1
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