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: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.010 1.000 1 2015 2015
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: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 < 0.001 1 2018 2018
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
dbSNP: rs11167761
rs11167761
PCDH1
2 0.925 0.120 5 141858778 intron variant G/A snv 0.14 0.010 1.000 1 2014 2014
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: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2010 2010
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
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: 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: rs1221479287
rs1221479287
KIR2DL1 ; KIR2DS1 ; KIR2DS4 ; KIR3DL1
2 0.925 0.120 19 54783499 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1239828657
rs1239828657
IL33 ; LOC107987046
2 0.925 0.120 9 6256028 missense variant T/G snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs13139310
rs13139310
IRF2
3 0.925 0.120 4 184435757 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1335908042
rs1335908042
IL37
2 0.925 0.120 2 112918756 missense variant T/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1343795
rs1343795
ZNF652
5 0.882 0.120 17 49334880 intron variant C/A snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs1422985
rs1422985
SPINK5
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010
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: rs167769
rs167769
STAT6
5 0.827 0.280 12 57109992 5 prime UTR variant C/T snv 0.31 0.010 1.000 1 2015 2015
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: rs174448
rs174448 		3 1.000 0.120 11 61872101 downstream gene variant G/A snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs17501010
rs17501010
CLDN1 ; LOC107986170
5 0.827 0.320 3 190308865 intron variant G/T snv 0.15 0.010 1.000 1 2016 2016