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: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.333 3 2003 2008
dbSNP: rs11675434
rs11675434
TPO
5 0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39 0.020 0.500 2 2015 2017
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.020 1.000 2 2014 2015
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2010 2015
dbSNP: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs1003199
rs1003199
IL12B
1 1.000 0.160 5 159328558 intron variant C/T snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1057745
rs1057745
MED29
1 1.000 0.160 19 39397750 missense variant G/A;C snv 1.3E-05; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1061501
rs1061501
IRF7
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2019 2019
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2008 2008
dbSNP: rs11083522
rs11083522
PLEKHG2 ; MIR4530
1 1.000 0.160 19 39410971 upstream gene variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs11250144
rs11250144
BLK
2 0.925 0.200 8 11528767 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1143643
rs1143643
IL1B
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs11611206
rs11611206
MDM1 ; LOC105369818
4 0.851 0.200 12 68274666 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs11652878
rs11652878
ITGAE
2 0.925 0.160 17 3751686 missense variant A/C;G snv 4.0E-06; 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1179251
rs1179251
IL22 ; LOC105369818
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1264439
rs1264439
ABCF1 ; MIR877
1 1.000 0.160 6 30584725 intron variant A/C snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs12756618
rs12756618 		1 1.000 0.160 1 85587205 downstream gene variant C/T snv 4.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs12885526
rs12885526
TSHR ; LOC101928462
2 0.925 0.160 14 81108085 intron variant G/A snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs13143866
rs13143866
IL21 ; IL21-AS1
4 0.851 0.200 4 122619603 intron variant G/A snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1378228
rs1378228
DDAH1
1 1.000 0.160 1 85570890 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1393491
rs1393491 		1 1.000 0.160 10 100367390 downstream gene variant T/C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs16840252
rs16840252
CTLA4
8 0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs17879469
rs17879469
HLA-DRB1
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.010 < 0.001 1 2005 2005