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: 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: 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: 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: 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: rs10025419
rs10025419
EMCN
1 4 100647799 intron variant G/A snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs10041590
rs10041590
C5orf17
2 5 24064827 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10054178
rs10054178
C5orf17
2 5 24059742 intron variant A/G snv 7.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs10056373
rs10056373
C5orf17
2 5 24069684 intron variant C/T snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs10119043
rs10119043 		2 9 135122706 downstream gene variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10178992
rs10178992
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233749231 intron variant T/A snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10179091
rs10179091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233749337 intron variant T/C snv 0.49 0.700 1.000 1 2015 2015
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: rs10484554
rs10484554
HLA-B ; LOC112267902
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs10827209
rs10827209
NRP1
2 10 33198261 intron variant A/C snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs10892961
rs10892961
CLMP
2 11 123093392 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10929301
rs10929301
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
4 2 233755003 splice region variant C/G;T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs10929302
rs10929302
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
4 2 233757136 intron variant G/A snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs11011237
rs11011237
TACC1P1
2 10 37531016 intron variant G/A snv 9.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs11012476
rs11012476
NEBL
3 0.925 0.120 10 21003994 intron variant C/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs11087114
rs11087114
MACROD2 ; MACROD2-AS1
1 20 14931037 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11218976
rs11218976
CLMP
2 11 123090950 intron variant A/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs11228672
rs11228672
OR5M13P
2 11 56597931 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs113051092
rs113051092
C5orf17
2 5 24060490 intron variant A/T snv 7.4E-02 0.700 1.000 1 2015 2015