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: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1204135596
rs1204135596
NLRP3
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1424748509
rs1424748509
TNFRSF1A
1 12 6330859 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2808635
rs2808635 		1 1 159724419 intergenic variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs41550816
rs41550816
HLA-B ; HLA-C
1 6 31271178 missense variant C/T snv 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: rs766778566
rs766778566
MEFV
1 16 3243532 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs7805622
rs7805622
LOC100240728
2 7 56483270 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs781431904
rs781431904
PSEN1
1 14 73192663 missense variant A/G snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs876538
rs876538 		2 1 159705927 upstream gene variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057518886
rs1057518886
HMBS
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs62641689
rs62641689
HCN4
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs864309530
rs864309530
LYST
3 1 235806165 missense variant G/T snv 0.700 0
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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
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: 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: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2000 2016
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
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: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 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: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2012 2012