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: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.900 0.957 23 2009 2020
dbSNP: rs27434
rs27434
ERAP1
1 1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05 0.890 1.000 10 2009 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.760 0.571 7 2005 2018
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.750 1.000 6 2010 2019
dbSNP: rs17482078
rs17482078
ERAP1 ; LOC102724748
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.040 1.000 4 2011 2015
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.730 0.750 4 2002 2016
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.030 1.000 3 2009 2018
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.030 1.000 3 2013 2016
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.030 1.000 3 2010 2018
dbSNP: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.710 1.000 3 2013 2018
dbSNP: rs4333130
rs4333130
ANTXR2
1 1.000 0.040 4 80028675 intron variant C/G;T snv 0.820 1.000 3 2010 2016
dbSNP: rs11466023
rs11466023
MEFV
6 0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05 0.020 1.000 2 2012 2018
dbSNP: rs1264457
rs1264457
HLA-E
4 0.851 0.160 6 30490287 missense variant G/A;T snv 0.54 0.020 1.000 2 2007 2009
dbSNP: rs2310173
rs2310173 		2 0.925 0.080 2 102047167 intron variant T/C;G snv 0.810 1.000 2 2010 2016
dbSNP: rs27356
rs27356
ANKH
1 1.000 0.040 5 14722332 intron variant C/G;T snv 0.020 1.000 2 2005 2013
dbSNP: rs27529
rs27529
ERAP1
1 1.000 0.040 5 96790605 missense variant A/G;T snv 0.62 0.710 1.000 2 2011 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 2010 2017
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.020 1.000 2 2016 2019
dbSNP: rs4077515
rs4077515
CARD9
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.020 1.000 2 2010 2016
dbSNP: rs4149570
rs4149570
TNFRSF1A
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs1001007
rs1001007
CCR5AS
5 0.827 0.120 3 46387167 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10019009
rs10019009
DMP1 ; LOC105377323
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1004189
rs1004189
PIKFYVE
1 1.000 0.040 2 208349547 intron variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1004234
rs1004234
IRF1-AS1 ; LINC02863
5 0.827 0.120 5 132421409 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1009759
rs1009759
PDCD1LG2
1 1.000 0.040 9 5556786 intron variant A/C;G snv 0.010 < 0.001 1 2011 2011