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: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1634323
rs1634323
TLR7
3 0.882 0.200 X 12870008 intron variant A/G snv 0.11 0.010 < 0.001 1 2015 2015
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 < 0.001 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 < 0.001 1 2015 2015
dbSNP: rs2111485
rs2111485 		17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs4242392
rs4242392
TNFRSF10A
1 1.000 0.080 8 23204120 intron variant T/C snv 0.19 0.010 < 0.001 1 2015 2015
dbSNP: rs696
rs696
NFKBIA
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs7566605
rs7566605
LOC107985940
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 < 0.001 1 2008 2008
dbSNP: rs10853728
rs10853728 		5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.020 0.500 2 2011 2012
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.020 0.500 2 2015 2018
dbSNP: rs36084323
rs36084323
PDCD1
8 0.807 0.280 2 241859444 upstream gene variant C/T snv 5.4E-02 0.020 0.500 2 2015 2018
dbSNP: rs868
rs868
TGFBR1
4 0.851 0.160 9 99149374 3 prime UTR variant A/G snv 0.17 0.020 0.500 2 2014 2017
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.030 0.667 3 2011 2019
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.030 0.667 3 2016 2019
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 0.882 17 1998 2020
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.100 0.900 10 2011 2018
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.905 21 2011 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.929 14 2000 2010
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.100 0.965 113 2010 2019
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 0.969 196 2009 2019
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.100 1.000 18 2011 2019
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.100 1.000 18 2014 2019
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.100 1.000 10 2012 2019
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.070 1.000 7 2009 2016