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: rs485497
rs485497
IL12A-AS1
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1234313
rs1234313
TNFSF4
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2254546
rs2254546 		6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 < 0.001 1 2005 2005
dbSNP: rs2618479
rs2618479
BLK
2 0.925 0.280 8 11498312 intron variant A/G snv 0.84 0.010 1.000 1 2013 2013
dbSNP: rs3792783
rs3792783
TNIP1
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs10817595
rs10817595
AKNA
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs7582694
rs7582694
STAT4
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.020 1.000 2 2013 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.020 1.000 2 2013 2016
dbSNP: rs10840759
rs10840759
CLEC4A
3 0.882 0.200 12 8138610 intron variant C/T snv 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11575837
rs11575837
NCR3
2 1.000 0.200 6 31592893 5 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs2377422
rs2377422
CLEC4A
3 0.882 0.200 12 8128312 intron variant C/T snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2008 2008
dbSNP: rs9514828
rs9514828
TNFSF13B
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.010 1.000 1 2014 2014
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: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1376314937
rs1376314937
AKNA
1 1.000 0.200 9 114361709 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs201802880
rs201802880
NCF1
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 < 0.001 1 2017 2017
dbSNP: rs3135945
rs3135945
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
2 1.000 0.200 3 48467567 synonymous variant G/A snv 9.4E-03 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs844648
rs844648
TNFSF4 ; LOC100506023
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2013 2013