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: 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: rs1598856
rs1598856
NFKB1
1.000 0.080 4 102524958 intron variant A/G snv 0.61
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2017 2017
dbSNP: rs230534
rs230534
NFKB1
0.882 0.120 4 102527884 intron variant T/C snv 0.73
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2017 2017
dbSNP: rs17033015
rs17033015 		1.000 0.080 4 102625147 intergenic variant A/C snv 0.65
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2019 2019
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: 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: 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: 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: rs526231
rs526231 		1.000 0.080 5 103345680 intergenic variant C/T snv 0.24
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: rs11065987
rs11065987 		0.807 0.280 12 111634620 intergenic variant A/G snv 0.29
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2015 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: rs80073729
rs80073729
RMI2 ; LOC105371082
1.000 0.080 16 11279940 intron variant G/A snv 4.1E-03
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
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: rs4979467
rs4979467
DELEC1
0.925 0.080 9 114867763 intron variant C/T snv 0.52
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2017 2017
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: rs80065107
rs80065107 		1.000 0.080 11 118812058 regulatory region variant T/C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs77871618
rs77871618 		1.000 0.080 11 118862915 intergenic variant C/T snv 6.6E-03
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2017 2017
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: 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