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: rs1060822
rs1060822
NOS2
1 1.000 0.040 17 27765605 synonymous variant A/G snv 0.66 0.68 0.010 < 0.001 1 2011 2011
dbSNP: rs11697325
rs11697325 		1 1.000 0.040 20 46000706 regulatory region variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1805193
rs1805193
SELE ; C1orf112
1 1.000 0.040 1 169733631 5 prime UTR variant C/A snv 8.3E-02 7.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs376671742
rs376671742
IL17F
1 1.000 0.040 6 52238749 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs3806265
rs3806265
NLRP3
3 0.882 0.160 1 247423034 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1042173
rs1042173
SLC6A4
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2020 2020
dbSNP: rs10759931
rs10759931 		9 0.790 0.360 9 117701869 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs386834061
rs386834061
VPS13B
10 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs4612666
rs4612666
NLRP3
10 0.763 0.440 1 247435768 intron variant T/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2011 2011
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2020 2020
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2017 2017
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 2013 2013
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017