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: rs2395148
rs2395148
TSBP1 ; TSBP1-AS1
0.882 0.200 6 32353777 intron variant G/T snv 4.6E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2009 2009
dbSNP: rs2856683
rs2856683 		0.827 0.320 6 32687441 regulatory region variant T/A;C;G snv 0.25
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: 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: 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
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: rs538147
rs538147
RPS6KA4
0.925 0.080 11 64362250 intron variant G/A snv 0.29
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
dbSNP: rs6974491
rs6974491
ELMO1
0.807 0.120 7 37334906 intron variant G/A snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
dbSNP: rs7208487
rs7208487
FBXL20
0.925 0.080 17 39387196 intron variant T/A;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
dbSNP: rs8017161
rs8017161
EXOC3L4
0.925 0.080 14 103096858 intron variant G/A snv 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
dbSNP: rs968451
rs968451 		0.925 0.080 22 39274846 intron variant G/T snv 0.18
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2011
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: rs11064157
rs11064157
LTBR
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: 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: 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: rs12708715
rs12708715
CLEC16A
1.000 0.080 16 11083967 intron variant C/T snv 0.39
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs1646019
rs1646019
RMI2 ; LOC105371082
1.000 0.080 16 11265823 intron variant C/T snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs17564829
rs17564829
MAPT ; LOC105371800
1.000 0.080 17 45929235 intron variant T/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs2267407
rs2267407
SYNGR1
1.000 0.080 22 39351045 intron variant G/A snv 0.21
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012