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: rs2066446
rs2066446
IL12RB2
2 0.925 0.120 1 67315434 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs2251746
rs2251746
FCER1A
3 0.882 0.120 1 159302270 intron variant T/C snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs2427837
rs2427837
FCER1A
5 0.851 0.160 1 159288755 upstream gene variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs28441202
rs28441202
RPTN ; PUDPP2
2 0.925 0.120 1 152156387 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs3001978
rs3001978
RPTN ; PUDPP2
3 0.882 0.160 1 152153991 3 prime UTR variant T/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs4363385
rs4363385
LOC105371446
2 0.925 0.120 1 153016845 upstream gene variant T/C snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs471144
rs471144 		1 1.000 0.120 1 152481779 intergenic variant T/G snv 8.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs55879323
rs55879323
PUDPP2 ; FLG-AS1 ; LOC112268240
1 1.000 0.120 1 152196264 intron variant C/T snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs560912365
rs560912365
FLG ; FLG-AS1
2 0.925 0.120 1 152309046 stop gained C/G;T snv 4.0E-06; 2.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs61813875
rs61813875 		1 1.000 0.120 1 152564174 downstream gene variant C/G snv 1.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs6661961
rs6661961 		1 1.000 0.120 1 152469813 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs6684514
rs6684514
SMG5 ; TMEM79
4 0.925 0.120 1 156285665 missense variant G/A snv 0.27 0.24 0.010 1.000 1 2013 2013
dbSNP: rs6686734
rs6686734
MFN2
1 1.000 0.120 1 12008884 intron variant T/C snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs748135905
rs748135905
FLG ; FLG-AS1
2 0.925 0.120 1 152309045 stop gained C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs7512552
rs7512552
MRPS21 ; LOC105371434
4 1.000 0.120 1 150293284 upstream gene variant T/C snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs7534334
rs7534334
LELP1
3 0.882 0.160 1 153205376 downstream gene variant C/T snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs761212672
rs761212672
FLG ; FLG-AS1
3 0.882 0.120 1 152304999 stop gained G/T snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs77199844
rs77199844
LCE1E
1 1.000 0.120 1 152784619 upstream gene variant AT/- del 0.12 0.700 1.000 1 2015 2015
dbSNP: rs9050
rs9050
TCHH
1 1.000 0.120 1 152106838 3 prime UTR variant C/A snv 4.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs941934
rs941934
FLG-AS1
5 0.851 0.200 1 152417976 intron variant T/A;C snv 0.010 1.000 1 2017 2017
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: rs13015714
rs13015714
IL18R1
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.800 1.000 2 2012 2015
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: 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