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: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.020 1.000 2 2015 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.980 101 2005 2019
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.060 0.833 6 2011 2019
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.750 0.833 6 2013 2019
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.040 1.000 4 2009 2019
dbSNP: rs706778
rs706778
IL2RA
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.810 0.750 4 2011 2019
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 3 2011 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.810 1.000 3 2010 2019
dbSNP: rs2281808
rs2281808
SIRPG
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.020 1.000 2 2015 2019
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.020 1.000 2 2017 2019
dbSNP: rs6840978
rs6840978
IL21-AS1
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.800 1.000 2 2011 2019
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.020 1.000 2 2017 2019
dbSNP: rs10202630
rs10202630 		4 0.882 2 190398199 intergenic variant T/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
5 0.851 0.040 8 118939661 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10425559
rs10425559 		7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs10444776
rs10444776
LOC112268138
4 0.882 14 105647030 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10494079
rs10494079
VAV3
4 0.882 1 107832253 intron variant G/C snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10797431
rs10797431
LOC100996583
5 0.851 0.080 1 2569783 non coding transcript exon variant G/T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10937560
rs10937560
MB21D2
4 0.882 3 192909627 intron variant G/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10986284
rs10986284 		4 0.882 9 124236874 intergenic variant A/T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11073337
rs11073337
RASGRP1
5 0.851 0.040 15 38555562 intron variant A/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11086102
rs11086102 		6 0.882 19 18287818 upstream gene variant G/C snv 0.64 0.700 1.000 1 2019 2019