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: 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: rs7517847
rs7517847
IL23R ; C1orf141
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2012 2018
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: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 < 0.001 2 2013 2014
dbSNP: rs10440635
rs10440635 		2 1.000 0.040 5 40490688 intron variant G/A snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs11190133
rs11190133 		5 0.827 0.120 10 99518968 intergenic variant C/T snv 0.26 0.700 1.000 2 2013 2016
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.020 1.000 2 2012 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 2012 2018
dbSNP: rs11616188
rs11616188 		5 0.827 0.120 12 6393576 upstream gene variant G/A snv 0.30 0.800 1.000 2 2011 2016
dbSNP: rs11742270
rs11742270 		1 1.000 0.040 5 35881341 downstream gene variant G/A snv 0.20 0.710 0.500 2 2013 2016
dbSNP: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
3 0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36 0.020 1.000 2 2014 2017
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: rs17095830
rs17095830
ANO6
2 1.000 0.040 12 45381125 intron variant A/G snv 7.9E-02 0.810 1.000 2 2011 2013
dbSNP: rs1860545
rs1860545
TNFRSF1A
7 0.790 0.200 12 6337611 intron variant G/A snv 0.31 0.700 1.000 2 2013 2016
dbSNP: rs1894399
rs1894399
IL1A
2 0.925 0.040 2 112782600 intron variant C/T snv 0.32 0.020 1.000 2 2012 2012
dbSNP: rs2242944
rs2242944 		1 1.000 0.040 21 39093252 intergenic variant G/A snv 0.46 0.810 1.000 2 2010 2010
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.020 1.000 2 2017 2018
dbSNP: rs2310173
rs2310173 		2 0.925 0.080 2 102047167 intron variant T/C;G snv 0.810 1.000 2 2010 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 2 2016 2017
dbSNP: rs26307
rs26307
ANKH ; OTULIN
1 1.000 0.040 5 14705556 3 prime UTR variant T/C snv 0.72 0.020 1.000 2 2005 2013
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: 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: rs27582
rs27582
CAST ; ERAP1
1 1.000 0.040 5 96762510 3 prime UTR variant G/A snv 0.36 0.020 1.000 2 2014 2016