Source: BEFREE

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: rs16851720
rs16851720
RNF7
0.827 0.120 3 141744456 intron variant A/C snv 0.21
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.810 0.500 1 2012 2017
dbSNP: rs4374383
rs4374383
MERTK
0.776 0.200 2 112013193 intron variant A/G snv 0.58
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.810 1.000 1 2012 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 0.970 33 2000 2018
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 0.862 29 2011 2019
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 1.000 14 2011 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 0.909 11 2001 2017
dbSNP: rs2296651
rs2296651
SLC10A1
0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 1.000 5 2016 2019
dbSNP: rs28929474
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.050 1.000 5 2011 2019
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
0.689 0.320 19 54173068 missense variant T/A;C;G snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.040 1.000 4 2016 2019
dbSNP: rs236918
rs236918
PCSK7
0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.030 1.000 3 2014 2017
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.030 0.667 3 2013 2018
dbSNP: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.030 1.000 3 2008 2014
dbSNP: rs58542926
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.030 1.000 3 2015 2018
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.030 1.000 3 2012 2020
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.030 0.667 3 2012 2017
dbSNP: rs1012068
rs1012068
DEPDC5
0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2014 2016
dbSNP: rs11554495
rs11554495
KRT8
0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2003 2006
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2017 2017
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
0.807 0.160 12 53991163 intron variant A/C snv 0.26
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2014 2016
dbSNP: rs17580
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2019 2019
dbSNP: rs1800872
rs1800872
IL10 ; IL19
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2015 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
0.507 0.800 1 206773552 intron variant T/C snv 0.41
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2015 2016
dbSNP: rs2287622
rs2287622
ABCB11
0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2011 2012
dbSNP: rs28934571
rs28934571
TP53
0.645 0.360 17 7674216 missense variant C/A;G snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2012 2013
dbSNP: rs376373278
rs376373278
MPO
0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2011 2012