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: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
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: 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
dbSNP: rs1883832
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
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: rs1260326
rs1260326
GCKR
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: rs2104286
rs2104286
IL2RA
0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
0.689 0.600 1 67215986 intron variant T/G snv 0.37
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs72928038
rs72928038
BACH2
0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs4676410
rs4676410
GPR35
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: 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: rs3197999
rs3197999
APEH ; MST1
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: rs3747517
rs3747517
IFIH1
0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs4728142
rs4728142 		0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs7848647
rs7848647
TNFSF15
0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs1893592
rs1893592
UBASH3A
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: 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: rs2301436
rs2301436
FGFR1OP
0.752 0.320 6 167024500 intron variant C/T snv 0.42
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: 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: rs11221332
rs11221332
ETS1
0.763 0.280 11 128511079 intron variant C/A;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs17293632
rs17293632
SMAD3
0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs10995271
rs10995271 		0.776 0.280 10 62678726 downstream gene variant G/C snv 0.32
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs17102823
rs17102823 		0.776 0.080 14 34894698 intergenic variant A/C;G snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2018 2018