Source: BEFREE ×
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: rs7927894
rs7927894 		10 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.840 0.833 4 2009 2017
dbSNP: rs2897442
rs2897442
KIF3A
2 0.925 0.120 5 132713335 intron variant C/A;T snv 0.820 1.000 2 2011 2015
dbSNP: rs479844
rs479844 		2 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.820 1.000 2 2011 2015
dbSNP: rs12634229
rs12634229 		3 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.810 1.000 1 2012 2016
dbSNP: rs2155219
rs2155219 		4 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.810 1.000 1 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 1 2011 2015
dbSNP: rs3126085
rs3126085
FLG-AS1
5 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.810 1.000 1 2011 2012
dbSNP: rs4722404
rs4722404 		4 0.851 0.120 7 3089155 intron variant T/C snv 0.40 0.810 1.000 1 2012 2016
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
19 0.701 0.360 20 63678486 intron variant A/C;G snv 0.810 0.667 1 2011 2015
dbSNP: rs878860
rs878860 		3 0.882 0.120 11 7946812 intergenic variant C/T snv 0.35 0.810 1.000 1 2012 2016
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
20 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.800 1.000 13 2006 2018
dbSNP: rs11204971
rs11204971
FLG-AS1
2 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.710 1.000 1 2011 2012
dbSNP: rs112111458
rs112111458 		2 0.925 0.120 2 70872975 intergenic variant A/G snv 0.16 0.710 1.000 1 2015 2017
dbSNP: rs13360927
rs13360927
TMEM232
3 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 1 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 1 2011 2012
dbSNP: rs17389644
rs17389644 		2 0.925 0.120 4 122576542 intergenic variant G/A;T snv 0.710 1.000 1 2015 2018
dbSNP: rs2158177
rs2158177
TH2LCRR
2 0.925 0.120 5 132648366 intron variant A/G snv 0.18 0.710 1.000 1 2013 2017
dbSNP: rs2228145
rs2228145
IL6R
48 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 1 2013 2015
dbSNP: rs6473227
rs6473227 		2 0.925 0.120 8 80373657 intron variant C/A snv 0.54 0.710 1.000 1 2015 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
97 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: 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: 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
5 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