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: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.100 0.895 19 1998 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.100 0.818 11 1999 2011
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 1999 1999
dbSNP: rs75961395
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 1999 1999
dbSNP: rs80338707
rs80338707
PMM2 ; LOC100130283
0.925 0.080 16 8847775 missense variant G/A;C snv 6.8E-05; 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2001 2001
dbSNP: rs11554495
rs11554495
KRT8
0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2006 2006
dbSNP: rs57749775
rs57749775
KRT8
0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2006 2006
dbSNP: rs587777220
rs587777220
SCO1
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 0.500 2 2009 2013
dbSNP: rs121434622
rs121434622
FMR1
1.000 0.080 X 147936534 missense variant T/A snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs758564400
rs758564400
REN
0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1371149614
rs1371149614
SHBG
1.000 0.040 17 7630488 missense variant G/C snv 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2010 2010
dbSNP: rs4804803
rs4804803
CD209
0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2010 2010
dbSNP: rs738409
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.100 1.000 28 2011 2020
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.060 1.000 6 2011 2017
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.050 1.000 5 2011 2017
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 < 0.001 1 2011 2011
dbSNP: rs698
rs698
ADH1B ; ADH1C
0.724 0.240 4 99339632 missense variant T/A;C snv 0.35
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2011 2011
dbSNP: rs4950928
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2012 2012
dbSNP: rs7096206
rs7096206
MBL2
0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2012 2012
dbSNP: rs104894630
rs104894630
SCO1
0.882 0.120 17 10692805 missense variant G/A snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 < 0.001 1 2013 2013
dbSNP: rs10889677
rs10889677
IL23R
0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2013 2013