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: rs71559680
rs71559680 		6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 1 2016 2016
dbSNP: rs11306716
rs11306716 		5 0.827 0.120 2 203843041 intergenic variant T/-;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs11428092
rs11428092
USP34
1 1.000 0.040 2 61301164 intron variant -/A delins 0.34 0.010 1.000 1 2017 2017
dbSNP: rs17524488
rs17524488
SPP1
4 0.925 0.040 4 87975555 non coding transcript exon variant -/G delins 0.010 1.000 1 2018 2018
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2019 2019
dbSNP: rs34670647
rs34670647 		5 0.827 0.120 16 30159695 regulatory region variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs5743293
rs5743293
NOD2
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 1 2016 2016
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: 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: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 14 2008 2018
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: 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: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.870 1.000 9 2010 2019
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: rs27037
rs27037
CAST
1 1.000 0.040 5 96758990 intron variant T/G snv 0.72 0.760 1.000 7 2010 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: 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: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 0.500 4 2006 2018
dbSNP: rs6871626
rs6871626 		5 0.851 0.160 5 159399784 intron variant C/A;G snv 0.29 0.730 1.000 4 2013 2018
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 0.667 3 2009 2018
dbSNP: rs11209032
rs11209032 		10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.030 1.000 3 2012 2017
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