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: rs17622378
rs17622378
0.790 0.200 5 132442760 intron variant A/G snv 0.28
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2026029
rs2026029
0.827 0.120 13 49021195 intron variant A/G snv 0.58
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2042011
rs2042011
0.827 0.120 8 128215706 upstream gene variant A/G snv 0.39
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2111485
rs2111485
0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2284553
rs2284553
0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2357623
rs2357623
0.827 0.120 16 50660100 upstream gene variant A/G snv 0.71
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2538470
rs2538470
0.827 0.120 7 148523356 intergenic variant A/G snv 0.61
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2666218
rs2666218
0.827 0.120 2 9262859 intron variant A/G snv 0.32
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2816958
rs2816958
0.827 0.120 1 200132792 intron variant A/G snv 0.84
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2856674
rs2856674
0.925 0.160 6 32691868 regulatory region variant A/G snv 9.8E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2013 2013
dbSNP: rs3118471
rs3118471
0.827 0.120 10 6060794 intron variant A/G snv 0.24
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs34920465
rs34920465
0.807 0.160 1 22373858 intergenic variant A/G snv 0.24
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs35874463
rs35874463
0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs4561177
rs4561177
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: rs72871627
rs72871627
0.827 0.120 2 162280432 intron variant A/G snv 7.1E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs7552167
rs7552167
0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs7608910
rs7608910
0.827 0.120 2 60977721 intron variant A/G snv 0.37
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs7915475
rs7915475
0.827 0.120 10 62621908 intron variant A/G snv 0.28
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs79568124
rs79568124
0.827 0.120 1 161533059 intron variant A/G snv 8.8E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs9491891
rs9491891
0.827 0.120 6 127956006 intergenic variant A/G snv 0.12
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs9554587
rs9554587
0.827 0.120 13 99388400 downstream gene variant A/G snv 0.17
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1001007
rs1001007
0.827 0.120 3 46387167 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1004234
rs1004234
0.827 0.120 5 132421409 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016