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: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2014 2014
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 0.500 2 2007 2010
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2014 2019
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2014 2014
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.020 1.000 2 2015 2017
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 0.500 2 2010 2018
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.020 1.000 2 2014 2017
dbSNP: rs2395029
rs2395029
HCP5
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2014 2014
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015