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: rs1057519328
rs1057519328
MEFV
1 1.000 0.200 16 3249592 missense variant G/C snv 2.1E-05 0.700 0
dbSNP: rs146597836
rs146597836
ADA2
1 1.000 0.200 22 17189987 missense variant C/T snv 1.8E-03 1.6E-03 0.700 0
dbSNP: rs746055479
rs746055479
NOD2
1 1.000 0.200 16 50712108 missense variant G/A;T snv 2.4E-05 0.700 0
dbSNP: rs750868279
rs750868279
ADA2
1 1.000 0.200 22 17203576 missense variant G/A snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs751454741
rs751454741
MEFV
1 1.000 0.200 16 3254736 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs752615209
rs752615209
NOD2
1 1.000 0.200 16 50710956 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs755659290
rs755659290
MEFV
1 1.000 0.200 16 3249480 missense variant T/C snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs774164456
rs774164456
PSTPIP1
1 1.000 0.200 15 77032888 missense variant G/A;C snv 2.6E-05 0.700 0
dbSNP: rs886039866
rs886039866
TNFRSF1A
1 1.000 0.200 12 6333376 missense variant G/A snv 0.700 0
dbSNP: rs886040969
rs886040969
NOD2
1 1.000 0.200 16 50712357 missense variant G/A snv 0.700 0
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2003 2003
dbSNP: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.020 1.000 2 2000 2004
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2004 2004
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 2005 2005
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2006 2006
dbSNP: rs201565523
rs201565523
SLC11A1
3 0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs104895297
rs104895297
MVK
3 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121908147
rs121908147
NLRP3
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs370893734
rs370893734
TNF
1 1.000 0.200 6 31577481 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs104894559
rs104894559
CA4
3 0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs104895083
rs104895083
MEFV
2 0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1327295035
rs1327295035
IL17A
1 1.000 0.200 6 52187730 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs201890924
rs201890924
IL17A
1 1.000 0.200 6 52187736 missense variant G/A snv 5.2E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs758548184
rs758548184
NOD2
5 0.851 0.240 16 50699557 missense variant G/C snv 0.010 1.000 1 2008 2008