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: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725
TYK2
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs11102522
rs11102522
RHOC
1 1.000 0.040 1 112708266 intron variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11117420
rs11117420
LINC02132
1 1.000 0.040 16 85938316 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11117432
rs11117432 		4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs11171747
rs11171747
ESYT1 ; ZC3H10
1 1.000 0.040 12 56124624 3 prime UTR variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs11191865
rs11191865
STN1
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs11217020
rs11217020
DDX6
1 1.000 0.040 11 118768644 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs112846137
rs112846137 		4 0.851 0.160 3 160595133 intergenic variant G/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs1131665
rs1131665
IRF7
4 0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33 0.010 1.000 1 2012 2012
dbSNP: rs1133906
rs1133906
SAMD9L
2 0.925 0.080 7 93135669 synonymous variant C/T snv 0.22 0.28 0.800 1.000 1 2013 2013
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs11538960
rs11538960
RHOC ; MOV10
1 1.000 0.040 1 112701565 missense variant C/T snv 4.2E-04 5.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs11594656
rs11594656 		9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs11642873
rs11642873 		4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs11724804
rs11724804
DGKQ
4 0.882 0.160 4 971991 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs11860650
rs11860650
ITGAM
3 0.882 0.120 16 31315385 intron variant C/T snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs12150220
rs12150220
NLRP1
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2011 2011