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: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.810 0.750 4 2008 2019
dbSNP: rs660895
rs660895
HLA-DRB1
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.810 1.000 4 2007 2018
dbSNP: rs909685
rs909685
SYNGR1
2 0.925 0.200 22 39351666 intron variant T/A snv 0.37 0.810 1.000 4 2014 2019
dbSNP: rs968567
rs968567
FADS1 ; FADS2
7 0.851 0.240 11 61828092 intron variant C/T snv 0.11 0.810 1.000 4 2009 2019
dbSNP: rs10774624
rs10774624
LINC02356
6 0.882 0.160 12 111395984 intron variant G/A snv 0.67 0.810 1.000 3 2014 2019
dbSNP: rs13031237
rs13031237
REL
3 1.000 0.120 2 60908994 intron variant G/T snv 0.25 0.810 1.000 3 2009 2012
dbSNP: rs2233434
rs2233434
NFKBIE
1 1.000 0.120 6 44265183 missense variant A/G snv 4.9E-02 5.1E-02 0.810 1.000 3 2012 2016
dbSNP: rs2240335
rs2240335
PADI4
1 1.000 0.120 1 17348042 synonymous variant C/A snv 0.39 0.37 0.810 1.000 3 2011 2019
dbSNP: rs2872507
rs2872507 		12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.810 1.000 3 2010 2012
dbSNP: rs624988
rs624988 		2 0.925 0.120 1 116721168 regulatory region variant T/A;C snv 0.810 1.000 3 2013 2019
dbSNP: rs6457620
rs6457620 		5 0.882 0.200 6 32696222 intergenic variant G/C snv 0.52 0.810 1.000 3 2008 2016
dbSNP: rs6859219
rs6859219
ANKRD55
4 0.925 0.160 5 56142753 intron variant C/A snv 0.20 0.810 1.000 3 2010 2012
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.810 1.000 3 2012 2016
dbSNP: rs73013527
rs73013527 		1 1.000 0.120 11 128627057 intron variant C/T snv 0.37 0.810 1.000 3 2014 2019
dbSNP: rs11761231
rs11761231 		1 1.000 0.120 7 131685280 intergenic variant T/C snv 0.66 0.810 1.000 2 2007 2009
dbSNP: rs13017599
rs13017599
NONOP2
3 0.882 0.160 2 60937196 non coding transcript exon variant G/A snv 0.25 0.810 1.000 2 2009 2012
dbSNP: rs13192471
rs13192471 		3 0.925 0.160 6 32703326 downstream gene variant T/C snv 0.19 0.810 1.000 2 2010 2018
dbSNP: rs13397
rs13397
TMEM187 ; MIR3202-2
2 0.925 0.200 X 153982797 synonymous variant G/A snv 0.27 0.15 0.810 1.000 2 2012 2017
dbSNP: rs2841277
rs2841277
PLD4
3 0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41 0.810 1.000 2 2012 2017
dbSNP: rs3093024
rs3093024
CCR6 ; LOC105378122
3 0.882 0.200 6 167119305 non coding transcript exon variant A/G snv 0.61 0.810 1.000 2 2010 2014
dbSNP: rs231735
rs231735 		1 1.000 0.120 2 203829153 intergenic variant G/T snv 0.55 0.810 1.000 1 2009 2009
dbSNP: rs10484565
rs10484565
TAP2
2 0.925 0.200 6 32827255 3 prime UTR variant G/A snv 6.1E-02 0.800 1.000 4 2007 2016
dbSNP: rs13330176
rs13330176 		1 1.000 0.120 16 85985481 upstream gene variant T/A snv 0.24 0.800 1.000 4 2012 2019
dbSNP: rs1571878
rs1571878
CCR6 ; LOC107986672
1 1.000 0.120 6 167127354 intron variant C/T snv 0.61 0.800 1.000 4 2012 2019
dbSNP: rs2561477
rs2561477
MACIR
1 1.000 0.120 5 103273223 intron variant G/A snv 0.24 0.800 1.000 4 2012 2019