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: rs2897442
rs2897442
KIF3A
2 0.925 0.120 5 132713335 intron variant C/A;T snv 0.820 1.000 4 2011 2015
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: 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: 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: rs17389644
rs17389644 		3 0.925 0.120 4 122576542 intergenic variant G/A;T snv 0.710 1.000 2 2015 2018
dbSNP: rs2158177
rs2158177
TH2LCRR
5 0.925 0.120 5 132648366 intron variant A/G snv 0.18 0.710 1.000 2 2013 2017
dbSNP: rs2212434
rs2212434 		1 1.000 0.120 11 76570549 intergenic variant C/T snv 0.39 0.700 1.000 2 2015 2015
dbSNP: rs2303064
rs2303064
SPINK5
2 0.925 0.120 5 148100517 missense variant G/A snv 0.20 0.25 0.020 1.000 2 2010 2012
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: rs4722404
rs4722404 		4 0.851 0.120 7 3089155 intron variant T/C snv 0.40 0.810 1.000 2 2012 2016
dbSNP: rs6473227
rs6473227 		2 0.925 0.120 8 80373657 intron variant C/A snv 0.54 0.710 1.000 2 2015 2018
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: rs878860
rs878860 		3 0.882 0.120 11 7946812 intergenic variant C/T snv 0.35 0.810 1.000 2 2012 2016
dbSNP: rs10067777
rs10067777
TMEM232
1 1.000 0.120 5 110490595 intron variant A/G snv 7.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs10199605
rs10199605
LINC00299
1 1.000 0.120 2 8354967 intron variant G/A snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs10214237
rs10214237 		1 1.000 0.120 5 35883632 downstream gene variant T/C snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs10738626
rs10738626 		1 1.000 0.120 9 22373458 intergenic variant C/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: rs10995251
rs10995251
ZNF365 ; LOC105378327
1 1.000 0.120 10 62638706 intron variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs11079788
rs11079788
TBX21
2 0.925 0.120 17 47743357 intron variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs11150780
rs11150780
SLC38A10
2 0.925 0.120 17 81290360 intron variant A/G;T snv 0.010 1.000 1 2019 2019