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: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
dbSNP: rs224222
rs224222
MEFV
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2012 2012
dbSNP: rs11466024
rs11466024
MEFV
2 0.925 0.080 16 3249468 missense variant C/A;T snv 1.6E-05; 1.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs1219605554
rs1219605554
NLRP3
1 1.000 0.040 1 247425505 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2013 2013
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 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs550622769
rs550622769
TNFRSF1A
1 1.000 0.040 12 6329578 missense variant G/A;C snv 4.5E-06; 9.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs8193038
rs8193038
IL17A
2 0.925 0.080 6 52186584 intron variant A/G snv 2.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs1129055
rs1129055
CD86
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2014 2014
dbSNP: rs17281995
rs17281995
CD86
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2016 2016
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 2015 2018
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 2013 2018
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.020 1.000 2 2011 2018
dbSNP: rs3748067
rs3748067
IL17A
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.020 1.000 2 2013 2019
dbSNP: rs4711998
rs4711998
IL17A
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.020 1.000 2 2013 2019
dbSNP: rs224224
rs224224
MEFV
2 0.925 0.080 16 3254654 synonymous variant T/A;C snv 1.7E-04; 0.44 0.010 1.000 1 2019 2019
dbSNP: rs3819024
rs3819024
IL17A
17 0.701 0.560 6 52185988 upstream gene variant A/G snv 0.34 0.010 1.000 1 2019 2019