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: rs1452787
rs1452787
0.827 0.160 18 55539976 intron variant A/G snv 0.24
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.800 1.000 1 2013 2013
dbSNP: rs4676410
rs4676410
0.716 0.240 2 240624322 intron variant G/A snv 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.800 1.000 1 2013 2013
dbSNP: rs3197999
rs3197999
0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 4 2011 2017
dbSNP: rs3184504
rs3184504
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
dbSNP: rs7426056
rs7426056
0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 3 2013 2017
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2016
dbSNP: rs13140464
rs13140464
0.925 0.040 4 122578590 regulatory region variant G/T snv 0.10
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs1788097
rs1788097
0.925 0.040 18 69876452 intron variant C/T snv 0.56
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs1893592
rs1893592
0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2016 2017
dbSNP: rs2836883
rs2836883
0.882 0.080 21 39094818 intergenic variant G/A snv 0.23
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs3748816
rs3748816
0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs4147359
rs4147359
0.925 0.040 10 6066476 upstream gene variant G/A snv 0.33
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs56258221
rs56258221
0.925 0.040 6 90320722 intron variant T/C snv 0.13
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs60652743
rs60652743
0.925 0.040 19 46702450 intron variant A/G snv 0.16
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
dbSNP: rs7937682
rs7937682
0.925 0.040 11 111709215 intron variant G/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 2 2013 2017
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
dbSNP: rs10094579
rs10094579
0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10510607
rs10510607
0.827 0.120 3 28244770 intron variant C/T snv 0.15
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10743181
rs10743181
0.827 0.120 11 2208529 regulatory region variant A/G snv 0.77
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10748781
rs10748781
0.763 0.160 10 99523573 upstream gene variant C/A;G snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10750899
rs10750899
0.827 0.120 11 58517478 intergenic variant G/A snv 0.95
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10758669
rs10758669
0.763 0.280 9 4981602 upstream gene variant C/A;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10761648
rs10761648
0.827 0.120 10 62594503 intron variant C/T snv 0.20
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10775412
rs10775412
0.827 0.120 17 27542007 intron variant A/C snv 0.30
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016