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: 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: rs706778
rs706778
IL2RA
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.810 0.750 4 2011 2019
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: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.030 0.667 3 2006 2012
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: rs113994136
rs113994136
STAT3
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2011
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: 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: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.020 0.500 2 2012 2013
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: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.710 1.000 2 2011 2016
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.020 1.000 2 2017 2019
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.710 1.000 2 2012 2015
dbSNP: rs6840978
rs6840978
IL21-AS1
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.800 1.000 2 2011 2019
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2013 2014
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.020 1.000 2 2017 2019