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: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.810 1.000 4 2008 2015
dbSNP: rs1308699981
rs1308699981
FCGR3A
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.040 1.000 4 2002 2010
dbSNP: rs13385731
rs13385731
RASGRP3
3 0.882 0.200 2 33476823 intron variant T/C snv 6.3E-02 0.810 1.000 4 2009 2017
dbSNP: rs17849502
rs17849502
NCF2 ; SMG7
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.720 1.000 4 2012 2019
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.040 1.000 4 2010 2017
dbSNP: rs201802880
rs201802880
NCF1
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.040 1.000 4 2017 2020
dbSNP: rs2070197
rs2070197
IRF5
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.730 0.750 4 2007 2015
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.800 1.000 4 2008 2016
dbSNP: rs2248932
rs2248932
BLK
3 0.882 0.160 8 11534141 intron variant A/G snv 0.60 0.720 1.000 4 2008 2011
dbSNP: rs2431098
rs2431098 		5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2008 2018
dbSNP: rs3024493
rs3024493
IL10 ; IL19
9 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.720 1.000 4 2013 2019
dbSNP: rs3024505
rs3024505 		10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.720 1.000 4 2009 2015
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.810 1.000 4 2008 2016
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.730 1.000 4 2015 2019
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.040 0.500 4 2012 2017
dbSNP: rs370504038
rs370504038
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.710 1.000 4 2007 2013
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.040 1.000 4 2009 2019
dbSNP: rs4948496
rs4948496
ARID5B
2 0.925 0.120 10 62045858 intron variant T/C snv 0.55 0.810 1.000 4 2013 2016
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.750 4 2004 2016
dbSNP: rs548234
rs548234
ATG5
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.830 1.000 4 2009 2017
dbSNP: rs560051377
rs560051377
FCGR3B
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.040 1.000 4 2002 2010
dbSNP: rs6445975
rs6445975
PXK
4 0.851 0.160 3 58384450 intron variant G/T snv 0.63 0.830 1.000 4 2008 2012
dbSNP: rs6590330
rs6590330 		5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.820 1.000 4 2009 2015
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 4 2015 2019