Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.963 27 2000 2018
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.889 27 2011 2019
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 12 2011 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.090 0.889 9 2001 2011
dbSNP: rs2296651
rs2296651
SLC10A1
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.040 1.000 4 2016 2018
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.040 1.000 4 2016 2019
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2014 2017
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2008 2014
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.030 1.000 3 2015 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2012 2020
dbSNP: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.020 1.000 2 2012 2013
dbSNP: rs376373278
rs376373278
MPO
3 0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06 0.020 1.000 2 2011 2012
dbSNP: rs4074
rs4074
CXCL1
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.020 1.000 2 2012 2013
dbSNP: rs430397
rs430397
HSPA5
9 0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11 0.020 1.000 2 2009 2011
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2011 2012
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2014 2017
dbSNP: rs972427414
rs972427414
MPO
3 0.882 0.120 17 58279379 missense variant A/G snv 0.020 1.000 2 2011 2012
dbSNP: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10053538
rs10053538
HAVCR2
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016