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: rs1054609
rs1054609
ZPBP2
0.925 0.160 17 39877024 3 prime UTR variant A/C snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10607450
rs10607450 		1.000 0.080 11 118812058 regulatory region variant T/C snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs1076222
rs1076222
KANSL1
1.000 0.080 17 46032403 non coding transcript exon variant C/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs1077358
rs1077358
MANBA
1.000 0.080 4 102632769 intron variant C/T snv 0.55
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268
MAPT ; STH
0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10843104
rs10843104
LOC105369710 ; LOC107984462
1.000 0.080 12 28123693 intergenic variant T/C snv 0.28
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10852935
rs10852935
ZPBP2
1.000 0.080 17 39875421 synonymous variant C/T snv 0.40 0.35
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10852936
rs10852936
ZPBP2
0.925 0.120 17 39875461 intron variant C/T snv 0.39 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10889681
rs10889681
IL12RB2
0.925 0.160 1 67333487 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs10892294
rs10892294 		1.000 0.080 11 118796648 downstream gene variant G/C snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2011 2011
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: rs10982445
rs10982445
TNFSF8 ; DELEC1
1.000 0.080 9 114897411 intron variant T/A;C snv
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: rs11078925
rs11078925
ZPBP2
0.925 0.160 17 39868955 intron variant T/C snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs11078928
rs11078928
GSDMB
0.925 0.160 17 39908216 splice acceptor variant T/A;C snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs11078929
rs11078929
PSMD3
1.000 0.080 17 39983981 intron variant C/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs11079725
rs11079725
SPPL2C ; MAPT-AS1
0.925 0.120 17 45846568 synonymous variant T/C snv 0.15 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs11079729
rs11079729
KANSL1
1.000 0.080 17 46038203 non coding transcript exon variant C/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 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: rs111413387
rs111413387 		1.000 0.080 17 46267043 non coding transcript exon variant A/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs11191909
rs11191909
COL17A1
1.000 0.080 10 104053243 intron variant C/T snv 0.15
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs111972148
rs111972148
MAPT ; MAPT-AS1 ; MAPT-IT1
1.000 0.080 17 45895755 intron variant G/C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs11209050
rs11209050
IL12RB2
1.000 0.080 1 67326053 intron variant A/C snv 0.68
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2011 2011
dbSNP: rs11209051
rs11209051
IL12RB2
1.000 0.080 1 67333212 intron variant C/T snv 0.73
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012