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: rs112130712
rs112130712
ROCK1
1 1.000 0.200 18 20967783 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs7234029
rs7234029
PTPN2
7 0.807 0.320 18 12877061 intron variant A/G snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2293152
rs2293152
STAT3
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.020 1.000 2 2012 2014
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: rs4795067
rs4795067
NOS2
3 0.882 0.280 17 27779649 intron variant A/G snv 0.31 0.010 < 0.001 1 2016 2016
dbSNP: rs744166
rs744166
STAT3
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.050 0.800 5 2000 2015
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.040 1.000 4 2000 2015
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2009 2019
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: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.020 1.000 2 2013 2015
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: 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: rs11574944
rs11574944
ITGAL
1 1.000 0.200 16 30498669 intron variant C/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs11642873
rs11642873 		4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs12932187
rs12932187
CIITA ; LOC105371080
2 0.925 0.320 16 10878023 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17445836
rs17445836 		5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs2929
rs2929
ITGAX
1 1.000 0.200 16 31381987 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs758548184
rs758548184
NOD2
5 0.851 0.240 16 50699557 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519328
rs1057519328
MEFV
1 1.000 0.200 16 3249592 missense variant G/C snv 2.1E-05 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: rs751454741
rs751454741
MEFV
1 1.000 0.200 16 3254736 missense variant C/T snv 4.0E-06 0.700 0