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: rs7849782
rs7849782
GRIN3A
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2013 2013
dbSNP: rs2285932
rs2285932
OAS3
5 0.851 0.120 12 112949145 synonymous variant T/C snv 0.76 0.78 0.010 1.000 1 2010 2010
dbSNP: rs2072136
rs2072136
OAS3
6 0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1732778
rs1732778 		5 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057518886
rs1057518886
HMBS
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs11575933
rs11575933
ADAMTS13
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs3804100
rs3804100
TLR2
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs876538
rs876538 		2 1 159705927 upstream gene variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2808635
rs2808635 		1 1 159724419 intergenic variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121917748
rs121917748
SCN2A
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs12477677
rs12477677
LINC01857
2 1.000 0.080 2 207666398 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1055229
rs1055229
LINC01857
2 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs864309530
rs864309530
LYST
3 1 235806165 missense variant G/T snv 0.700 0
dbSNP: rs1057518827
rs1057518827
NLRP3
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0
dbSNP: rs1204135596
rs1204135596
NLRP3
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2017 2017