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: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.060 1.000 6 2004 2012
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.060 0.833 6 2008 2019
dbSNP: rs7927894
rs7927894 		12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.840 0.833 6 2009 2017
dbSNP: rs479844
rs479844 		6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 5 2011 2015
dbSNP: rs11584340
rs11584340
FLG ; FLG-AS1
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.040 1.000 4 2011 2015
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: rs2155219
rs2155219 		14 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.810 1.000 3 2011 2015
dbSNP: rs2164983
rs2164983 		2 0.925 0.120 19 8679120 downstream gene variant C/A;G snv 0.19 0.810 1.000 3 2011 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: rs11204971
rs11204971
FLG-AS1
2 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 2 2011 2012
dbSNP: rs112111458
rs112111458 		2 0.925 0.120 2 70872975 intergenic variant A/G snv 0.16 0.710 1.000 2 2015 2017
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: rs12634229
rs12634229 		3 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.810 1.000 2 2012 2016
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: rs13015714
rs13015714
IL18R1
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.800 1.000 2 2012 2015
dbSNP: rs13360927
rs13360927
TMEM232
3 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 2 2011 2012
dbSNP: rs13361382
rs13361382
TMEM232
3 0.882 0.160 5 110713253 intron variant G/A snv 9.3E-02 0.710 1.000 2 2011 2012
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