Source: ALL

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: rs3194051
rs3194051
IL7R
0.851 0.200 5 35876172 missense variant A/G snv 0.24 0.28
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2015 2015
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.020 1.000 2 2011 2019
dbSNP: rs10336
rs10336
CXCL9 ; LOC101928809
0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2015 2015
dbSNP: rs3921
rs3921
ART3 ; CXCL10
0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2015 2015
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
0.689 0.320 19 54173068 missense variant T/A;C;G snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.020 1.000 2 2016 2019
dbSNP: rs72613567
rs72613567
HSD17B13
0.742 0.320 4 87310240 splice donor variant -/A delins 0.22
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 < 0.001 1 2019 2019
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.030 1.000 3 2009 2016
dbSNP: rs12980275
rs12980275 		0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2014 2014
dbSNP: rs28934571
rs28934571
TP53
0.645 0.360 17 7674216 missense variant C/A;G snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2015 2015
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2012 2012
dbSNP: rs1127354
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 < 0.001 1 2017 2017
dbSNP: rs780094
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2014 2014
dbSNP: rs58542926
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.030 1.000 3 2014 2016
dbSNP: rs6920220
rs6920220 		0.742 0.440 6 137685367 intron variant G/A snv 0.16
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2019 2019
dbSNP: rs10774671
rs10774671
OAS1
0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2015 2015
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2002 2002
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 1.000 11 2010 2019
dbSNP: rs12785878
rs12785878
NADSYN1
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2017 2017
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2015 2015
dbSNP: rs6897932
rs6897932
IL7R
0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2018 2018
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.070 1.000 7 2010 2019
dbSNP: rs1050450
rs1050450
GPX1
0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2016 2016
dbSNP: rs1799889
rs1799889
SERPINE1
0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2013 2013
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2016 2016
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 0.958 24 2010 2019