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: rs12942547
rs12942547
STAT3
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13196377
rs13196377
TRAF3IP2 ; TRAF3IP2-AS1
1 1.000 0.040 6 111580635 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1332099
rs1332099 		14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1333062
rs1333062
ITLN1
6 0.807 0.200 1 160876494 downstream gene variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1347671835
rs1347671835
IL17C
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs1406703700
rs1406703700
CD40
1 1.000 0.040 20 46122352 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs141992399
rs141992399
CARD9 ; DNLZ
5 0.827 0.120 9 136365140 splice donor variant C/G;T snv 3.3E-03; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs142903734
rs142903734
LOC107987207
1 1.000 0.040 14 98202442 intron variant GA/-;GAGA delins 0.700 1.000 1 2017 2017
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 0.010 < 0.001 1 2012 2012
dbSNP: rs1490867890
rs1490867890
MCL1 ; LOC107985203
3 0.882 0.080 1 150579475 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1554286
rs1554286
IL10 ; IL19
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1886734
rs1886734 		1 1.000 0.040 1 152618666 downstream gene variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs191667458
rs191667458
USP49
1 1.000 0.040 6 41829160 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs196941
rs196941
ERN1
5 0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
PLAU
6 0.827 0.120 10 73909432 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2243158
rs2243158
IL19
2 0.925 0.120 1 206834296 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2243188
rs2243188
IL19 ; LOC105372878
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.010 1.000 1 2004 2004
dbSNP: rs2268615
rs2268615
PGF
2 0.925 0.080 14 74951714 intron variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs2274907
rs2274907
ITLN1
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs2276405
rs2276405
AIM2
1 1.000 0.040 1 159073406 stop gained C/A;T snv 8.0E-06; 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs2282143
rs2282143
SLC22A1
1 1.000 0.040 6 160136611 missense variant C/G;T snv 1.6E-05; 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2497318
rs2497318 		6 0.827 0.120 10 92672243 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016