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: 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: rs10800314
rs10800314
0.827 0.120 1 161502999 upstream gene variant C/A snv 0.65
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676
0.827 0.120 1 67256884 intron variant C/A;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs114202211
rs114202211
0.827 0.120 1 113943285 intron variant T/C snv 8.1E-03
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: rs1333062
rs1333062
0.807 0.200 1 160876494 downstream gene variant T/C;G snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs16841904
rs16841904
0.807 0.160 1 197732862 intron variant C/T snv 0.18
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs183686347
rs183686347
0.827 0.120 1 67237759 intron variant G/A snv 4.8E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2234161
rs2234161
0.827 0.120 1 2559766 non coding transcript exon variant C/T snv 4.1E-05; 0.55 0.58
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: 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: rs3024493
rs3024493
0.776 0.280 1 206770623 intron variant C/A;T snv 0.11
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: rs3766606
rs3766606
0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs3806308
rs3806308
0.827 0.120 1 19816373 intron variant C/T snv 0.36
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs4129267
rs4129267
0.807 0.200 1 154453788 intron variant C/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs4655215
rs4655215
0.827 0.120 1 19811221 upstream gene variant T/C snv 0.68
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs4971079
rs4971079
0.827 0.120 1 155157915 intergenic variant G/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs61802846
rs61802846
0.827 0.120 1 161504083 upstream gene variant A/C snv 8.8E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs6425143
rs6425143
0.827 0.120 1 172875212 intron variant T/G snv 0.34
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs6426833
rs6426833
0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs6600247
rs6600247
0.827 0.120 1 24978623 intergenic variant T/C snv 0.55
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs6693105
rs6693105
0.827 0.120 1 152618187 downstream gene variant T/C snv 0.59
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016