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: 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
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: 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: 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
dbSNP: rs3807307
rs3807307
IRF5
0.827 0.120 7 128939148 intron variant T/C snv 0.41
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
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: 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: 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: 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
dbSNP: rs6871748
rs6871748 		1.000 0.080 5 35885880 intergenic variant T/C snv 0.21
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs6890853
rs6890853
LOC105374724
0.925 0.080 5 35852209 upstream gene variant G/A snv 0.25
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012
dbSNP: rs6897932
rs6897932
IL7R
0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2011 2017
dbSNP: rs694739
rs694739
LOC102723878
0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 1 2012 2012