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 0.800 1.000 16 2006 2018
dbSNP: rs2897442
rs2897442
KIF3A
2 0.925 0.120 5 132713335 intron variant C/A;T snv 0.820 1.000 4 2011 2015
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 2002 2016
dbSNP: rs138726443
rs138726443
FLG ; FLG-AS1
7 0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05 0.030 1.000 3 2010 2020
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.030 1.000 3 2009 2017
dbSNP: rs150597413
rs150597413
FLG ; FLG-AS1
5 0.827 0.160 1 152305146 stop gained G/A;C;T snv 3.6E-05; 4.0E-06; 1.5E-03 0.030 1.000 3 2010 2015
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 3 2011 2015
dbSNP: rs12144049
rs12144049 		1 1.000 0.120 1 152468434 intergenic variant C/G;T snv 0.700 1.000 2 2015 2015
dbSNP: rs121909626
rs121909626
FLG ; FLG-AS1
4 0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05 0.020 1.000 2 2007 2008
dbSNP: rs1295686
rs1295686
IL13 ; TH2LCRR
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.800 1.000 2 2013 2015
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2020
dbSNP: rs17389644
rs17389644 		3 0.925 0.120 4 122576542 intergenic variant G/A;T snv 0.710 1.000 2 2015 2018
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.020 1.000 2 2001 2016
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 2 2013 2015
dbSNP: rs2303070
rs2303070
SPINK5
3 0.882 0.120 5 148120328 missense variant G/A;C;T snv 0.13 0.020 1.000 2 2011 2012
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 2017 2019
dbSNP: rs877776
rs877776
FLG-AS1 ; LOC112268240
2 0.925 0.120 1 152205542 intron variant C/G;T snv 0.020 1.000 2 2010 2013
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10738626
rs10738626 		1 1.000 0.120 9 22373458 intergenic variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10791824
rs10791824
OVOL1 ; OVOL1-AS1
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10888499
rs10888499 		1 1.000 0.120 1 152560266 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11150780
rs11150780
SLC38A10
2 0.925 0.120 17 81290360 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs113136594
rs113136594
FLG ; FLG-AS1
2 0.925 0.120 1 152313436 missense variant G/A;C;T snv 6.0E-04; 4.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs115746363
rs115746363
FLG ; FLG-AS1
3 0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs12188917
rs12188917
IL13 ; TH2LCRR
1 1.000 0.120 5 132655393 intron variant T/C;G snv 0.700 1.000 1 2015 2015