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: 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: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2012 2012
dbSNP: rs638376
rs638376 		1 1.000 0.040 X 114998678 intergenic variant T/C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs5754467
rs5754467
YDJC ; CCDC116
4 0.851 0.160 22 21630805 upstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
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: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2834167
rs2834167
IL10RB
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.010 1.000 1 2008 2008
dbSNP: rs378299
rs378299
ICOSLG
3 0.882 0.160 21 44241460 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs999788
rs999788
IFNAR2 ; IL10RB ; IL10RB-DT
2 0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 0.500 2 2011 2016
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs6073976
rs6073976 		1 1.000 0.040 20 45980011 upstream gene variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs10406069
rs10406069
CD22 ; MIR5196
1 1.000 0.040 19 35345627 missense variant G/A;C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10413500
rs10413500
CD22 ; MIR5196
1 1.000 0.040 19 35345923 intron variant C/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10419538
rs10419538
CD22
1 1.000 0.040 19 35333116 intron variant C/G snv 0.11 0.010 1.000 1 2012 2012
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: rs149660944
rs149660944
CHST8
5 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2002 2002
dbSNP: rs2304256
rs2304256
TYK2
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2305743
rs2305743
IL12RB1
1 1.000 0.040 19 18082381 intron variant G/A snv 0.19 0.700 1.000 1 2019 2019