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: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.020 1.000 2 2011 2013
dbSNP: rs7999348
rs7999348
UBAC2
1 1.000 0.200 13 99280668 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs7854303
rs7854303
PDCD1LG2
1 1.000 0.200 9 5557672 missense variant T/C snv 1.00 1.00 0.010 1.000 1 2011 2011
dbSNP: rs7775759
rs7775759 		6 0.925 0.200 6 31384669 upstream gene variant G/A snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs7753873
rs7753873
WAKMAR2 ; LOC107986649
3 0.882 0.320 6 137852285 intron variant A/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs774164456
rs774164456
PSTPIP1
1 1.000 0.200 15 77032888 missense variant G/A;C snv 2.6E-05 0.700 0
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 < 0.001 1 2012 2012
dbSNP: rs76546355
rs76546355 		2 0.925 0.200 6 31381371 downstream gene variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs76481776
rs76481776
MIR182 ; LOC105375501
4 0.925 0.200 7 129770387 non coding transcript exon variant C/G;T snv 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs762421
rs762421
GATD3A
4 0.851 0.360 21 44195678 intron variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs7616215
rs7616215
CCR3 ; LOC105377067
2 0.925 0.280 3 46164194 intron variant C/T snv 0.62 0.810 1.000 2 2013 2015
dbSNP: rs758548184
rs758548184
NOD2
5 0.851 0.240 16 50699557 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs7574070
rs7574070
STAT4
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs7572482
rs7572482
STAT4
1 1.000 0.200 2 191150346 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs755659290
rs755659290
MEFV
1 1.000 0.200 16 3249480 missense variant T/C snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs752637
rs752637
IRF5
2 0.925 0.280 7 128939366 intron variant T/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs752615209
rs752615209
NOD2
1 1.000 0.200 16 50710956 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs751454741
rs751454741
MEFV
1 1.000 0.200 16 3254736 missense variant C/T snv 4.0E-06 0.700 0