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: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 1.000 11 2008 2017
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.090 1.000 9 2009 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.040 1.000 4 2009 2019
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.040 1.000 4 2007 2017
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.730 1.000 4 2011 2017
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 3 2011 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.810 1.000 3 2010 2019
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.720 1.000 3 2010 2013
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.020 1.000 2 2001 2015
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.020 1.000 2 2011 2011
dbSNP: rs113994136
rs113994136
STAT3
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2011
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.020 1.000 2 2012 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.020 1.000 2 2015 2020
dbSNP: rs13151961
rs13151961
KIAA1109
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.710 1.000 2 2010 2011
dbSNP: rs1678542
rs1678542
KIF5A
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.710 1.000 2 2011 2015
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.020 1.000 2 2011 2016
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2007 2015
dbSNP: rs2056626
rs2056626
CD247
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.710 1.000 2 2011 2013
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.020 1.000 2 2009 2015
dbSNP: rs2281808
rs2281808
SIRPG
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2006 2006
dbSNP: rs2816316
rs2816316
LOC105371664
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.710 1.000 2 2011 2017
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.020 1.000 2 2015 2019
dbSNP: rs34557412
rs34557412
TNFRSF13B
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.020 1.000 2 2012 2015