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: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.030 1.000 3 2013 2015
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.020 1.000 2 2013 2015
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.020 1.000 2 2013 2015
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2002 2005
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2002 2005
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2000 2000
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1894399
rs1894399
IL1A
2 0.925 0.040 2 112782600 intron variant C/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2002 2002
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.010 1.000 1 2013 2013
dbSNP: rs2856836
rs2856836
IL1A
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs3181357
rs3181357
TNFSF8 ; DELEC1
1 1.000 0.040 9 114930064 intron variant G/A;T snv 0.13; 5.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs3811058
rs3811058
IL1F10
2 0.925 0.040 2 113074368 missense variant T/A;C snv 4.0E-06; 0.13 0.010 1.000 1 2012 2012
dbSNP: rs41494349
rs41494349
LRP5
4 0.882 0.080 11 68348021 missense variant A/G snv 1.9E-02 8.2E-03 0.010 1.000 1 2007 2007
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs6908425
rs6908425
CDKAL1
11 0.752 0.320 6 20728500 intron variant T/C snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs774359492
rs774359492
WDHD1
7 0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs7761118
rs7761118
MAPK14
1 1.000 0.040 6 36100526 intron variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 < 0.001 1 2008 2008