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 0.966 29 2007 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.905 21 2004 2018
dbSNP: rs6920220
rs6920220 		14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.900 0.938 16 2007 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.850 0.818 11 2008 2019
dbSNP: rs3761847
rs3761847
TRAF1
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.870 0.909 11 2007 2015
dbSNP: rs10818488
rs10818488
C5-OT1
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.090 1.000 9 2008 2014
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.790 1.000 9 2007 2014
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.880 1.000 8 2007 2016
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.780 0.625 8 2006 2012
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.770 1.000 8 2007 2020
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.070 0.857 7 2015 2020
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.840 1.000 7 2008 2016
dbSNP: rs1980422
rs1980422 		9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.820 0.833 6 2012 2019
dbSNP: rs2075876
rs2075876
AIRE
2 0.925 0.120 21 44289270 non coding transcript exon variant G/A snv 0.19 0.860 0.833 6 2011 2019
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.060 0.667 6 2008 2019
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.060 0.833 6 2015 2020
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.820 1.000 6 2007 2018
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.050 0.800 5 2008 2018
dbSNP: rs10919563
rs10919563
PTPRC
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.740 1.000 5 2010 2016
dbSNP: rs1343151
rs1343151
IL23R
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.050 1.000 5 2009 2020
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.830 1.000 5 2012 2015
dbSNP: rs26232
rs26232
MACIR
4 0.925 0.160 5 103261019 intron variant C/T snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2812378
rs2812378
CCL21
8 0.790 0.200 9 34710263 intron variant G/A;C snv 0.820 1.000 5 2008 2017
dbSNP: rs2900180
rs2900180
C5-OT1
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.830 1.000 5 2007 2019
dbSNP: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.050 0.800 5 2014 2019