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: rs4979462
rs4979462
TNFSF15
0.790 0.240 9 114804733 intron variant C/T snv 0.13
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.830 1.000 3 2012 2019
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: rs4938534
rs4938534
POU2AF1 ; BTG4
0.925 0.080 11 111404408 intron variant G/A snv 0.56
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.810 1.000 2 2012 2017
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: rs7774434
rs7774434 		0.807 0.360 6 32689801 TF binding site variant T/C snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 4 2010 2015
dbSNP: rs9303277
rs9303277
IKZF3
0.790 0.240 17 39820216 intron variant C/T snv 0.52
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 4 2010 2017
dbSNP: rs10488631
rs10488631
TNPO3
0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 3 2009 2015
dbSNP: rs1800693
rs1800693
TNFRSF1A
0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 3 2011 2015
dbSNP: rs3745516
rs3745516
SPIB
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: rs911263
rs911263
RAD51B
0.851 0.200 14 68286876 intron variant C/T snv 0.57
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 3 2011 2015
dbSNP: rs12924729
rs12924729
CLEC16A
0.882 0.200 16 11093926 intron variant G/A snv 0.34
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 2 2011 2015
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: 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: 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: rs6421571
rs6421571 		0.851 0.200 11 118873063 intergenic variant T/A;C snv
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: rs7665090
rs7665090
MANBA
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: 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: rs1054037
rs1054037
MANBA
1.000 0.080 4 102631552 3 prime UTR variant C/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2015
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: rs11065979
rs11065979 		0.851 0.200 12 111621753 intergenic variant C/T snv 0.30
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs11117432
rs11117432 		0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
dbSNP: rs11117433
rs11117433 		0.827 0.160 16 85985910 upstream gene variant G/A;C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
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: rs12531711
rs12531711
TNPO3
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