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: rs13107612
rs13107612
BANK1
0.827 0.120 4 101818823 intron variant C/T snv 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs4851529
rs4851529
LOC107985926
0.827 0.120 2 102030838 downstream gene variant G/A snv 0.44
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs871656
rs871656
IL1R1
0.827 0.120 2 102154822 intron variant T/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs12987977
rs12987977
IL18R1
0.827 0.120 2 102358876 intron variant T/G snv 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs3774937
rs3774937
NFKB1
0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs228614
rs228614
MANBA
0.925 0.120 4 102657480 intron variant G/A snv 0.50
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2017 2017
dbSNP: rs74956615
rs74956615
FDX2 ; RAVER1
0.807 0.160 19 10317045 3 prime UTR variant T/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs35018800
rs35018800
TYK2
0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
TYK2
0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs35074907
rs35074907
KEAP1
0.807 0.160 19 10489742 synonymous variant G/A snv 1.9E-02 1.5E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
LINC02213
0.827 0.120 5 10521556 intron variant G/A;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs4946717
rs4946717
PRDM1
0.827 0.120 6 106026874 intron variant C/A;G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841
PRDM1 ; ATG5
0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs12369214
rs12369214
RIC8B
0.807 0.120 12 106804833 intron variant G/A snv 0.41
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs3776414
rs3776414
DAP
0.827 0.120 5 10689450 intron variant T/G snv 0.48
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs4293777
rs4293777
CLNK
0.925 0.080 4 10715315 intergenic variant G/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2017 2017
dbSNP: rs7805114
rs7805114 		0.827 0.120 7 107809588 downstream gene variant T/A;G snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs6466198
rs6466198 		0.827 0.120 7 107839681 regulatory region variant A/T snv 0.68
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs7115956
rs7115956
RDX ; LOC107984384
0.827 0.120 11 110085620 intron variant C/T snv 0.38
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177
RDX ; ZC3H12C
0.807 0.120 11 110091706 intron variant A/G snv 0.36
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs8061882
rs8061882
CLEC16A
0.827 0.120 16 11067551 intron variant G/C snv 0.11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs725613
rs725613
CLEC16A
0.851 0.240 16 11075826 intron variant T/G snv 0.42
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2017 2017
dbSNP: rs72837826
rs72837826
MIR4435-2HG
1.000 0.040 2 111175424 intron variant G/T snv 7.8E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2017 2017
dbSNP: rs6720394
rs6720394
MIR4435-2HG
0.925 0.040 2 111231795 intron variant T/G snv 0.11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2011 2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 3 2013 2017