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: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987
ERAP1
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.010 1.000 1 2018 2018
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs2395029
rs2395029
HCP5
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2020 2020
dbSNP: rs2442598
rs2442598
ANGPT2 ; MCPH1
2 0.925 0.120 8 6537300 intron variant T/C snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018
dbSNP: rs2675662
rs2675662
CAMK2G
2 0.925 0.040 10 73839369 intron variant A/G snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs2675669
rs2675669 		1 1.000 0.040 10 73894114 intergenic variant C/T snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs27432
rs27432
ERAP1 ; LOC102724748
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs27524
rs27524
CAST ; ERAP1
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
dbSNP: rs28998802
rs28998802
NOS2
6 0.807 0.120 17 27797882 intron variant G/A snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs3135388
rs3135388
HLA-DRA
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 1.000 1 2013 2013
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs33980500
rs33980500
TRAF3IP2 ; TRAF3IP2-AS1
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.710 1.000 2 2010 2015
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs367569
rs367569
RMI2 ; LOC105371082
6 0.807 0.120 16 11271643 intron variant C/T snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs3739390
rs3739390
ANGPT2 ; MCPH1
1 1.000 0.040 8 6562969 5 prime UTR variant C/G snv 6.7E-02 5.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs3802826
rs3802826
ETS1
2 0.925 0.040 11 128536543 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2016 2016
dbSNP: rs3806265
rs3806265
NLRP3
3 0.882 0.160 1 247423034 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs3918254
rs3918254
MMP9
4 0.851 0.200 20 46011752 splice region variant C/T snv 3.0E-02 2.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs4406273
rs4406273
HLA-B ; LINC02571 ; LOC112267902
2 0.925 0.040 6 31298313 intron variant G/A snv 8.6E-02 0.700 1.000 1 2015 2015