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 0.900 1.000 15 2006 2019
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 0.040 1.000 4 2009 2020
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
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 0.500 4 2002 2016
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: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
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: rs146466242
rs146466242
FLG ; FLG-AS1
4 0.851 0.120 1 152302822 stop gained T/A;C snv 1.4E-03; 8.0E-06 0.020 1.000 2 2015 2017
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: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 0.500 2 2011 2011
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 2013 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 2019
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 0.500 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: rs1025549
rs1025549
PLCL1
1 1.000 0.040 2 198016459 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1032841
rs1032841
LINC01814
1 1.000 0.040 2 8526108 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1050153
rs1050153
TFRC
2 0.925 0.120 3 196049444 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs10791824
rs10791824
OVOL1 ; OVOL1-AS1
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10910095
rs10910095
LOC100996583
2 1.000 0.040 1 2579316 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10937319
rs10937319
RTP2 ; LOC100131635
1 1.000 0.040 3 187711669 intron variant T/A;C snv 0.700 1.000 1 2019 2019
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: rs11539209
rs11539209
PKN3 ; ZDHHC12
2 1.000 0.040 9 128721272 missense variant T/A;C snv 7.4E-02 0.700 1.000 1 2019 2019