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: rs180802994
rs180802994
IRGM
2 0.925 0.040 5 150848174 missense variant G/A;C;T snv 4.6E-05; 7.2E-03; 6.5E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs2228226
rs2228226
GLI1 ; ARHGAP9
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 < 0.001 1 2010 2010
dbSNP: rs2243639
rs2243639
SFTPD
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.010 < 0.001 1 2011 2011
dbSNP: rs2277680
rs2277680
CXCL16
10 0.776 0.160 17 4735268 missense variant G/A snv 0.47 0.41 0.010 < 0.001 1 2008 2008
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 < 0.001 1 2018 2018
dbSNP: rs272879
rs272879
SLC22A4 ; MIR3936HG
4 0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57 0.010 < 0.001 1 2010 2010
dbSNP: rs4804803
rs4804803
CD209
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.010 < 0.001 1 2007 2007
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 < 0.001 1 2011 2011
dbSNP: rs72796353
rs72796353
NOD2
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs746482334
rs746482334
APAF1 ; ANKS1B
1 1.000 0.040 12 98732507 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs758548184
rs758548184
NOD2
5 0.851 0.240 16 50699557 missense variant G/C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs771121262
rs771121262
MST1R ; LOC102724438
1 1.000 0.040 3 49897561 missense variant G/A snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 0.500 2 2014 2015
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2011 2014
dbSNP: rs2075820
rs2075820
NOD1
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.020 0.500 2 2003 2007
dbSNP: rs962917
rs962917
MYO9B
4 0.882 0.040 19 17191438 intron variant G/A snv 0.45 0.020 0.500 2 2014 2016
dbSNP: rs11747270
rs11747270
IRGM
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.820 0.667 3 2008 2020
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.030 0.667 3 2013 2015
dbSNP: rs145922845
rs145922845
IL10 ; IL19
1 1.000 0.040 1 206772393 missense variant C/T snv 1.9E-03 1.8E-03 0.030 0.667 3 2000 2005
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.720 0.667 3 2010 2017
dbSNP: rs224136
rs224136 		2 0.925 0.120 10 62710915 intron variant C/A;T snv 0.34 0.810 0.667 3 2007 2019
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.030 0.667 3 2009 2016
dbSNP: rs1248696
rs1248696
DLG5
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.070 0.714 7 2006 2016
dbSNP: rs1545620
rs1545620
MYO9B
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.040 0.750 4 2008 2016
dbSNP: rs4263839
rs4263839
TNFSF15
7 0.807 0.160 9 114804160 intron variant A/G snv 0.75 0.830 0.750 4 2008 2014