Source: GWASDB

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 1 2012 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 1 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 1 2012 2014
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
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: 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 1 2011 2015
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
dbSNP: rs2297067
rs2297067
EXOC3L4
1.000 0.080 14 103100448 missense variant C/T snv 0.22 0.20
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2015
dbSNP: rs2304256
rs2304256
TYK2
0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2015
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: 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: 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: 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: rs34536443
rs34536443
TYK2
0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs35188261
rs35188261
TNPO3
1.000 0.080 7 129043485 intron variant G/A snv 9.0E-02
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: 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