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: 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: 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: 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: 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: 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: rs3126085
rs3126085
FLG-AS1
5 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.810 1.000 2 2011 2012
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: rs10888499
rs10888499 		1 1.000 0.120 1 152560266 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11205006
rs11205006 		1 1.000 0.120 1 152467700 intergenic variant A/T snv 0.72 0.700 1.000 1 2015 2015
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: rs12081541
rs12081541 		2 0.925 0.160 1 152468890 intergenic variant T/C snv 8.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs12130219
rs12130219
PUDPP2 ; FLG-AS1 ; LOC112268240
2 0.925 0.120 1 152189630 non coding transcript exon variant A/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs12568784
rs12568784
FLG-AS1 ; FLG2
2 0.925 0.120 1 152350656 stop gained G/A;T snv 0.24 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs1443712053
rs1443712053
FLG ; FLG-AS1
2 0.925 0.120 1 152310672 stop gained G/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs145627745
rs145627745
FLG ; FLG-AS1
2 0.925 0.120 1 152313145 missense variant T/A snv 7.8E-03 8.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs149484917
rs149484917
FLG ; FLG-AS1
3 0.882 0.120 1 152304939 stop gained G/C;T snv 4.7E-04; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs16833974
rs16833974
FLG-AS1 ; FLG2
2 0.925 0.120 1 152354040 missense variant T/C snv 1.6E-02 6.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs180768115
rs180768115
FLG ; FLG-AS1
2 0.925 0.120 1 152310342 stop gained G/C;T snv 8.0E-06; 1.7E-04 0.010 1.000 1 2015 2015