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: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10415893
rs10415893 		1 1.000 19 17401603 upstream gene variant G/A snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs1047552
rs1047552
APH1B
2 0.925 0.080 15 63305658 missense variant T/A;G snv 6.1E-02 4.7E-02 0.010 1.000 1 2009 2009
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 2017 2017
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10754558
rs10754558
NLRP3
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.020 1.000 2 2010 2012
dbSNP: rs10808739
rs10808739
CYP7B1
6 0.882 8 64727703 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs10831234
rs10831234
MRE11 ; ANKRD49
1 1.000 11 94500021 downstream gene variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10892324
rs10892324
SLC37A4
5 0.925 11 119032329 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11038628
rs11038628
TRIM5
1 1.000 11 5667710 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2013 2019
dbSNP: rs11157436
rs11157436
TRAV30
7 0.851 0.040 14 22168978 synonymous variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11212495
rs11212495
CUL5
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11231017
rs11231017 		5 0.925 11 62293877 downstream gene variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs1126477
rs1126477
LTF
7 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 1.000 1 2015 2015
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs11649112
rs11649112
SHISA9 ; LOC107984137
5 0.925 16 13267554 intron variant G/A snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs11790131
rs11790131
LOC105375988
6 0.882 0.080 9 19469848 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2015 2015
dbSNP: rs12460243
rs12460243
FBN3
5 0.925 19 8066356 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs1291142
rs1291142
SAMHD1
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs13064773
rs13064773 		5 0.925 3 158893105 intergenic variant G/A snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs139292
rs139292
APOBEC3H
1 1.000 22 39100318 inframe deletion CAA/- delins 0.010 1.000 1 2016 2016
dbSNP: rs139297
rs139297
APOBEC3H
1 1.000 22 39101399 missense variant G/A;C;T snv 4.0E-06; 0.47 0.010 1.000 1 2016 2016