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: rs2295415
rs2295415
CREM
3 0.882 0.160 10 35212510 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs292001
rs292001
C1QA
6 0.807 0.320 1 22638465 intron variant G/A snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs434082
rs434082
SLC8A1
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs4984
rs4984
ADD2 ; LOC105374794
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2015 2015
dbSNP: rs6056923
rs6056923
PAK5
1 1.000 0.160 20 9840271 intron variant T/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs11057864
rs11057864
SCARB1
2 0.925 0.160 12 124851404 intron variant C/A snv 6.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1108131
rs1108131
CAMK1D
2 0.925 0.160 10 12455748 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2016 2016
dbSNP: rs2397084
rs2397084
IL17F
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs329498
rs329498
PELI1
3 0.882 0.200 2 64100410 synonymous variant G/A;C;T snv 8.0E-06; 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3792192
rs3792192
PLA2R1
2 0.925 0.160 2 160030364 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs4664308
rs4664308
PLA2R1 ; LOC105373717
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs6697139
rs6697139 		2 0.925 0.160 1 161690906 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs7692514
rs7692514 		2 0.925 0.160 4 65276878 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs958476
rs958476
BARX2 ; LOC107984410
2 0.925 0.160 11 129451923 3 prime UTR variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2017 2017
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2010 2017
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2017 2017
dbSNP: rs114580964
rs114580964
PRRC2A
1 1.000 0.160 6 31636736 missense variant C/A;T snv 3.4E-03 1.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs1456896
rs1456896 		5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2017 2017