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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2002 2002
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2020
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2006 2006
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2010 2010
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.750 4 1999 2013
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2001 2001
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2014 2018
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs7927894
rs7927894 		12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs2872507
rs2872507 		12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2305480
rs2305480
GSDMB
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.010 1.000 1 2015 2015
dbSNP: rs4523
rs4523
TBXA2R
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.010 1.000 1 2002 2002
dbSNP: rs4794820
rs4794820
LRRC3C
9 0.790 0.160 17 39933091 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs569108
rs569108
MS4A2
8 0.790 0.200 11 60095631 missense variant A/G snv 4.7E-02 7.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs4065275
rs4065275
ORMDL3
6 0.807 0.160 17 39924612 intron variant A/G;T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs928413
rs928413
IL33
7 0.807 0.120 9 6213387 upstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs324015
rs324015
STAT6
5 0.827 0.120 12 57096317 3 prime UTR variant T/C snv 0.76 0.020 1.000 2 2014 2014
dbSNP: rs2664538
rs2664538
MMP9
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs6871536
rs6871536
RAD50 ; TH2LCRR
5 0.827 0.160 5 132634182 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015