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: 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: 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: 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: 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: 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: rs469758
rs469758
ERAP1 ; LOC102724748
0.827 0.120 5 96786011 intron variant C/T snv 0.62 0.63
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938
ITGAL
0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs2234161
rs2234161
TNFRSF14
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: rs3748816
rs3748816
MMEL1
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: rs174535
rs174535
MYRF ; TMEM258
0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs12718244
rs12718244
SPATA48
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: rs663743
rs663743
CCDC88B ; LOC102723878
0.827 0.120 11 64340263 5 prime UTR variant G/A snv 0.33 0.25
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2017 2017
dbSNP: rs11230563
rs11230563
CD6 ; LOC105369326
0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs2236379
rs2236379
PRKCQ
0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
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: 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: rs2024092
rs2024092
SBNO2
0.827 0.120 19 1124032 intron variant G/A snv 0.24 0.26
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs3749171
rs3749171
GPR35
0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
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: 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: rs35874463
rs35874463
SMAD3
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: rs35074907
rs35074907
KEAP1
0.807 0.160 19 10489742 synonymous variant G/A snv 1.9E-02 1.5E-02
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: rs35667974
rs35667974
IFIH1
0.776 0.280 2 162268127 missense variant T/C snv 1.1E-02 1.2E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs35018800
rs35018800
TYK2
0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016