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: rs10494132
rs10494132
CHIA
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2008 2008
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: rs2282290
rs2282290
CHIA
2 0.925 0.080 1 111320829 intron variant A/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs3806448
rs3806448
CHIA
2 0.925 0.080 1 111289583 upstream gene variant G/A snv 0.45 0.010 1.000 1 2008 2008
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: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1558641
rs1558641
IL1R1
3 0.925 0.080 2 102149405 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs3217304
rs3217304
INPP4A
2 0.925 0.080 2 98544046 intron variant ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC delins 0.25 0.010 1.000 1 2008 2008
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: rs3776944
rs3776944
LTC4S
2 0.925 0.080 5 179793009 upstream gene variant G/A snv 8.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs55661460
rs55661460
IL12B ; LOC107986469
3 0.882 0.120 5 159320326 missense variant C/T snv 2.2E-03 7.3E-04 0.010 1.000 1 2001 2001
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
dbSNP: rs11575936
rs11575936
IFNGR1
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.010 1.000 1 2001 2001
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: rs6967330
rs6967330
CDHR3
8 0.827 0.120 7 106018005 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2015 2015
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: rs1425851607
rs1425851607
IFNA1
2 0.925 0.080 9 21440691 frameshift variant C/- delins 4.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs1538660
rs1538660
ELP1
3 0.882 0.080 9 108879545 missense variant G/A snv 0.19 0.22 0.010 1.000 1 2003 2003
dbSNP: rs900333744
rs900333744
IFNA1
2 0.925 0.080 9 21440695 missense variant A/G snv 0.010 1.000 1 2001 2001
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: 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: 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: 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: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2014 2018