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: rs1018981
rs1018981
LOC105375246
1 1.000 0.120 7 41335525 intergenic variant C/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs10931481
rs10931481
STAT4
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs11893432
rs11893432
STAT4
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs10954213
rs10954213
IRF5
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 < 0.001 1 2018 2018
dbSNP: rs11466018
rs11466018
MEFV
7 0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs3807306
rs3807306
IRF5
8 0.776 0.320 7 128940626 intron variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs10919563
rs10919563
PTPRC
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2240337
rs2240337
PADI4
2 0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs4750316
rs4750316
LINC02649 ; LINC02656
5 0.882 0.160 10 6351298 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs953387
rs953387 		1 1.000 0.120 2 136149600 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1003706636
rs1003706636
NLRP3
1 1.000 0.120 1 247424639 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10431961
rs10431961
MMP25
1 1.000 0.120 16 3050094 synonymous variant C/G;T snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs10822050
rs10822050 		14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10988542
rs10988542
FNBP1
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
IL23R ; C1orf141
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
NKD1
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015