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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
dbSNP: rs267607656
rs267607656
KRT1
2 0.925 0.080 12 52675439 inframe deletion GTAGCTGCTACCTCCGGAGCC/- delins 0.010 1.000 1 2017 2017
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2019 2019
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.090 0.889 9 2009 2017
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.870 0.778 9 2009 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 1.000 5 2002 2010
dbSNP: rs2056626
rs2056626
CD247
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs35677470
rs35677470
DNASE1L3
6 0.807 0.160 3 58197909 missense variant G/A;C snv 4.8E-02; 4.0E-06 0.710 1.000 4 2014 2019
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs1059702
rs1059702
IRAK1
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.030 1.000 3 2011 2017
dbSNP: rs3821236
rs3821236
STAT4
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 3 2010 2019
dbSNP: rs10174238
rs10174238
STAT4
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs11893432
rs11893432
STAT4
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.700 1.000 2 2014 2018
dbSNP: rs12039904
rs12039904
TNFSF4 ; LOC100506023
1 1.000 0.040 1 173243134 intergenic variant C/T snv 0.19 0.020 1.000 2 2011 2012
dbSNP: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs13239597
rs13239597
TNPO3 ; TPI1P2
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.020 1.000 2 2010 2011
dbSNP: rs1857066
rs1857066
TNFSF4 ; LOC100506023
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012