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: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2256298
rs2256298
JAK1
1 1.000 0.200 1 64864999 intron variant G/A snv 0.30 0.36 0.010 1.000 1 2014 2014
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2013 2013
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs2489188
rs2489188
TGFBR3
2 0.925 0.200 1 91866932 intron variant C/T snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3021094
rs3021094
IL10 ; IL19
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs3024498
rs3024498
IL10
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs310241
rs310241
JAK1
3 0.882 0.360 1 64837655 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs310245
rs310245
JAK1
1 1.000 0.200 1 64840499 intron variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2012 2012
dbSNP: rs3790532
rs3790532
JAK1
2 0.925 0.320 1 64837707 intron variant G/A snv 2.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs3790622
rs3790622
IL10 ; IL19
3 0.882 0.320 1 206771818 intron variant G/A snv 1.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs3818753
rs3818753
JAK1
3 1.000 0.200 1 64873549 3 prime UTR variant A/G snv 1.0E-02 3.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs428888
rs428888
FCGR3A
2 0.925 0.240 1 161548496 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs6940
rs6940
IFI16
1 1.000 0.200 1 159054878 missense variant A/T snv 0.15 0.17 0.010 1.000 1 2015 2015
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs855873
rs855873
AIM2
1 1.000 0.200 1 159077922 intron variant A/G snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs943899383
rs943899383
F5
1 1.000 0.200 1 169586343 frameshift variant C/- delins 0.010 1.000 1 2010 2010
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2005 2014
dbSNP: rs7574070
rs7574070
STAT4
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.020 1.000 2 2006 2009
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2011 2011