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: rs11676348
rs11676348
0.790 0.160 2 218145423 regulatory region variant C/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs11691685
rs11691685
0.827 0.120 2 144724260 intron variant A/G snv 5.2E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs11749040
rs11749040
0.827 0.120 5 40396323 regulatory region variant G/A snv 0.15
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs11749391
rs11749391
0.827 0.120 5 150849504 intron variant T/C snv 0.21
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
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: rs1182188
rs1182188
0.827 0.120 7 2830351 intron variant T/C snv 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12075255
rs12075255
0.827 0.120 1 206788283 intron variant A/G snv 0.74
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12131796
rs12131796
0.827 0.120 1 200909599 intron variant G/A snv 0.22
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12188300
rs12188300
0.807 0.120 5 159402519 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12369214
rs12369214
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: rs1250573
rs1250573
0.827 0.120 10 79282718 intron variant G/A snv 0.23
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1267499
rs1267499
0.807 0.160 6 14715651 intron variant T/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12694846
rs12694846
0.827 0.120 2 230283413 intron variant A/G snv 0.20
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12718244
rs12718244
0.827 0.120 7 50136058 intron variant G/A snv 0.33 0.33
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
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: rs12879003
rs12879003
0.827 0.120 14 35359535 downstream gene variant T/A;G snv 0.43
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1292035
rs1292035
0.827 0.120 17 59912196 intron variant G/A snv 0.16
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12932970
rs12932970
0.827 0.120 16 85970504 intron variant T/C snv 0.29
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12942547
rs12942547
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12943464
rs12943464
0.827 0.120 17 47612985 intron variant A/T snv 0.45
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12968719
rs12968719
0.827 0.120 18 12879467 intron variant G/A snv 8.5E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs12987977
rs12987977
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: rs13107612
rs13107612
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: rs13132308
rs13132308
0.807 0.160 4 122629959 intron variant A/G snv 0.10
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016