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: rs2287987
rs2287987
ERAP1
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.070 1.000 7 2010 2020
dbSNP: rs2853550
rs2853550
IL1B
3 0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83 0.020 1.000 2 2017 2020
dbSNP: rs3783546
rs3783546
IL1A
5 0.882 0.160 2 112777253 intron variant G/C snv 0.70 0.020 0.500 2 2017 2020
dbSNP: rs3783550
rs3783550
IL1A
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.020 0.500 2 2017 2020
dbSNP: rs1569198
rs1569198
DKK1
4 0.851 0.200 10 52316511 intron variant A/G snv 0.41 0.42 0.010 1.000 1 2020 2020
dbSNP: rs1896368
rs1896368
PRKG1-AS1
1 1.000 0.040 10 52309144 intron variant C/T snv 0.43 0.010 1.000 1 2020 2020
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.010 1.000 1 2020 2020
dbSNP: rs4792909
rs4792909 		2 1.000 0.040 17 43721456 upstream gene variant G/T snv 0.51 0.010 1.000 1 2020 2020
dbSNP: rs27044
rs27044
ERAP1 ; LOC102724748
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.100 1.000 16 2009 2019
dbSNP: rs10050860
rs10050860
ERAP1
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.790 0.900 10 2010 2019
dbSNP: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.870 1.000 9 2010 2019
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: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.040 1.000 4 2011 2019
dbSNP: rs11624293
rs11624293
LINC01147
5 0.827 0.120 14 88022477 intron variant T/C snv 0.13 0.710 1.000 3 2013 2019
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.030 1.000 3 2011 2019
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.030 1.000 3 2015 2019
dbSNP: rs8070463
rs8070463 		2 0.925 0.120 17 47691470 upstream gene variant T/C snv 0.54 0.820 1.000 3 2011 2019
dbSNP: rs27038
rs27038
CAST ; ERAP1 ; LOC102724748
1 1.000 0.040 5 96777250 intron variant A/G snv 0.82 0.020 1.000 2 2011 2019
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: 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 2015 2019
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: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2016 2019
dbSNP: rs1013210
rs1013210 		1 1.000 0.040 8 24259209 intergenic variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2019 2019