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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.850 0.667 6 2006 2017
dbSNP: rs12730735
rs12730735
PTPN22 ; AP4B1-AS1
1 1.000 0.040 1 113838835 intron variant T/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs17375018
rs17375018
IL23R ; C1orf141
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs2184658
rs2184658
HLX ; HLX-AS1
2 0.925 0.120 1 220879115 intron variant C/G snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2298213
rs2298213
TNFRSF18
1 1.000 0.040 1 1203822 synonymous variant T/C snv 9.1E-02 0.17 0.010 1.000 1 2011 2011
dbSNP: rs3753348
rs3753348
TNFRSF18
2 0.925 0.080 1 1208277 upstream gene variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs7537605
rs7537605
VAV3
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs78645479
rs78645479
FOXD3 ; FOXD3-AS1
4 0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.090 1.000 9 2001 2019
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs11571297
rs11571297 		3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs11675434
rs11675434
TPO
5 0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs1534422
rs1534422
MIR3681HG
6 0.827 0.160 2 12500615 intron variant G/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2009 2009
dbSNP: rs2071400
rs2071400
TPO
3 0.882 0.120 2 1412867 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2071403
rs2071403
TPO
2 0.925 0.120 2 1413472 5 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs6543116
rs6543116
IL1RL1
3 0.882 0.120 2 102311266 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs12492609
rs12492609
TMEM39A
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012