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: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2014 2014
dbSNP: rs1204135596
rs1204135596
NLRP3
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
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: rs2808635
rs2808635 		1 1 159724419 intergenic variant G/C;T snv 0.010 1.000 1 2011 2011
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
dbSNP: rs876538
rs876538 		2 1 159705927 upstream gene variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057518827
rs1057518827
NLRP3
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0
dbSNP: rs864309530
rs864309530
LYST
3 1 235806165 missense variant G/T snv 0.700 0
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: 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: 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: 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: rs61752115
rs61752115
PEX13
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1187636039
rs1187636039
EPHA3
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs199473092
rs199473092
SCN5A
3 0.925 0.080 3 38608175 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199473143
rs199473143
SCN5A
3 0.925 0.080 3 38597949 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs199473229
rs199473229
SCN5A
4 0.882 0.120 3 38560361 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs199473605
rs199473605
SCN5A
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009
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: rs747753882
rs747753882
TLR1
3 0.925 0.120 4 38797482 synonymous variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs755789256
rs755789256
EXOC1
1 4 55868434 missense variant G/A snv 2.8E-05 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2227956
rs2227956
HSPA1L
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2014 2014