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: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs4554699
rs4554699 		2 0.925 0.040 1 161638578 intergenic variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs624988
rs624988 		2 0.925 0.120 1 116721168 regulatory region variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6659932
rs6659932
IL12RB2
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs6672420
rs6672420
RUNX3 ; LOC105376878
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs704840
rs704840
TNFSF4 ; LOC100506023
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs753727908
rs753727908
FCGR3A
1 1.000 0.040 1 161544759 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs798036
rs798036
CD2
1 1.000 0.040 1 116766208 intron variant T/A snv 0.17 0.010 < 0.001 1 2017 2017
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs924080
rs924080 		3 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.870 0.778 9 2009 2017
dbSNP: rs3821236
rs3821236
STAT4
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 3 2010 2019
dbSNP: rs10174238
rs10174238
STAT4
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs11893432
rs11893432
STAT4
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.700 1.000 2 2014 2018
dbSNP: rs10168266
rs10168266
STAT4
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs10178332
rs10178332
ROCK2
2 0.925 0.120 2 11268891 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10186029
rs10186029
IKZF2
1 1.000 0.040 2 213064562 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10498070
rs10498070 		2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
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 2015 2015
dbSNP: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs13389408
rs13389408
STAT4
4 0.851 0.160 2 191068557 3 prime UTR variant T/C snv 7.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs16832798
rs16832798
NAB1
1 1.000 0.040 2 190669646 intron variant T/C snv 0.19 0.700 1.000 1 2019 2019