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: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.780 1.000 12 2007 2019
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.090 0.889 9 2009 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2014 2019
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.040 1.000 4 2012 2017
dbSNP: rs10399931
rs10399931
CHI3L1
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.030 1.000 3 2009 2019
dbSNP: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.820 0.667 3 2011 2018
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2009 2011
dbSNP: rs10903122
rs10903122 		5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 2 2011 2011
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.020 1.000 2 2015 2016
dbSNP: rs12083537
rs12083537
IL6R
4 0.882 0.200 1 154408627 intron variant A/G snv 0.22 0.020 1.000 2 2013 2016
dbSNP: rs12123821
rs12123821
FLG-AS1 ; LOC112268240
4 0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02 0.700 1.000 2 2019 2019
dbSNP: rs2070901
rs2070901
FCER1G
4 0.882 0.120 1 161215268 non coding transcript exon variant G/T snv 0.32 0.700 1.000 2 2019 2019
dbSNP: rs301819
rs301819
RERE
4 0.882 0.120 1 8441726 intron variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs7523907
rs7523907
CD247 ; LOC101928512
3 1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs10158467
rs10158467 		2 0.925 0.080 1 173162354 regulatory region variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10399805
rs10399805
CHI3L1
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10494132
rs10494132
CHIA
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2014 2014
dbSNP: rs10746463
rs10746463
CD55
4 0.851 0.200 1 207337251 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10789166
rs10789166
JAK1
1 1.000 0.080 1 64847130 intron variant A/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs10789340
rs10789340
LOC105378797
2 0.925 0.120 1 72474590 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10800812
rs10800812 		1 1.000 0.080 1 202086810 intergenic variant A/G snv 0.77 0.700 1.000 1 2000 2000
dbSNP: rs10917661
rs10917661
FCGR2B
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs10924993
rs10924993 		2 0.925 0.080 1 236296485 intergenic variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs1101999
rs1101999
PYHIN1
1 1.000 0.080 1 158962765 intron variant C/T snv 0.92 0.800 1.000 1 2011 2011