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: rs998410
rs998410
DELEC1
1.000 0.080 9 114860394 intron variant G/T snv 6.1E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9971100
rs9971100
COL17A1
1.000 0.080 10 104066661 intron variant A/C snv 0.19
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9910826
rs9910826 		1.000 0.080 17 39879395 downstream gene variant A/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9909593
rs9909593
IKZF3
0.925 0.160 17 39813896 intron variant A/G snv 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9908131
rs9908131
FBXL20
1.000 0.080 17 39364196 intron variant T/C snv 0.22
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2011 2011
dbSNP: rs9907088
rs9907088 		0.925 0.160 17 39878863 downstream gene variant G/A snv 0.39
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9906612
rs9906612
FBXL20
1.000 0.080 17 39391378 intron variant A/C snv 0.22
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2011 2011
dbSNP: rs9904624
rs9904624 		0.925 0.160 17 39880333 downstream gene variant A/G snv 0.39
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9903250
rs9903250
ZPBP2
1.000 0.080 17 39874777 intron variant G/A snv 0.43
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9901937
rs9901937
MAPT
1.000 0.080 17 45986357 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9901146
rs9901146 		0.882 0.160 17 39887090 intergenic variant G/A snv 0.45
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9891174
rs9891174
ZPBP2
1.000 0.080 17 39875549 intron variant T/A snv 0.39
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9877910
rs9877910
IL12A-AS1
1.000 0.080 3 160013032 intron variant C/T snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9858909
rs9858909 		1.000 0.080 3 88329198 intergenic variant A/G snv 0.54
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs975633
rs975633
PLCB1
1.000 0.080 20 8784642 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9746695
rs9746695
CLEC16A
1.000 0.080 16 11114037 intron variant T/A;C snv 0.32
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs974448
rs974448 		1.000 0.080 2 222140595 intergenic variant A/G snv 0.16
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9692219
rs9692219
SDK1
1.000 0.080 7 4043701 intron variant T/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
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: rs9652582
rs9652582
CLEC16A
1.000 0.080 16 11080707 intron variant G/A snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9646419
rs9646419
MED1
1.000 0.080 17 39440932 intron variant A/G snv 0.78
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2011 2011
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: rs9303281
rs9303281
GSDMB
0.882 0.160 17 39917793 non coding transcript exon variant G/A snv 0.50
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012
dbSNP: rs9303277
rs9303277
IKZF3
0.790 0.240 17 39820216 intron variant C/T snv 0.52
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.800 1.000 3 2010 2017
dbSNP: rs921650
rs921650
GSDMB
1.000 0.080 17 39912823 intron variant G/A snv 0.60
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.700 1.000 1 2012 2012