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 1.000 0.950 80 2004 2020
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.900 0.955 22 2007 2018
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.900 0.917 12 2007 2015
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.860 0.800 10 2007 2019
dbSNP: rs2903692
rs2903692
CLEC16A
6 0.807 0.360 16 11144926 intron variant G/A snv 0.33 0.840 1.000 4 2007 2010
dbSNP: rs2292239
rs2292239
ERBB3
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.830 1.000 7 2007 2019
dbSNP: rs1893217
rs1893217
PTPN2
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.830 0.667 6 2009 2019
dbSNP: rs2542151
rs2542151 		11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.830 1.000 6 2007 2015
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.830 1.000 4 2008 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 6 2009 2018
dbSNP: rs2281808
rs2281808
SIRPG
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.820 1.000 3 2009 2019
dbSNP: rs941576
rs941576
MEG3
1 1.000 0.120 14 100839708 intron variant A/G snv 0.45 0.820 1.000 2 2010 2015
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.810 1.000 5 2007 2015
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.810 1.000 4 2007 2010
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.810 1.000 3 2007 2017
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.810 1.000 3 2009 2012
dbSNP: rs229541
rs229541
C1QTNF6
8 0.807 0.200 22 37195278 intron variant G/A snv 0.49 0.810 1.000 3 2008 2015
dbSNP: rs9272346
rs9272346
HLA-DQA1
8 0.790 0.320 6 32636595 intron variant G/A snv 0.54 0.810 1.000 3 2007 2015
dbSNP: rs10509540
rs10509540
RNLS ; LOC101929727
2 0.925 0.160 10 88263276 upstream gene variant T/C snv 0.25 0.810 1.000 2 2009 2012
dbSNP: rs11171739
rs11171739
ERBB3
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.810 1.000 2 2007 2011
dbSNP: rs2290400
rs2290400
GSDMB
9 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.810 1.000 2 2009 2016
dbSNP: rs7020673
rs7020673
GLIS3
4 0.882 0.200 9 4291747 intron variant C/A;G snv 0.810 0.500 2 2009 2017
dbSNP: rs1265564
rs1265564
CUX2
4 1.000 0.120 12 111270654 non coding transcript exon variant A/C snv 0.30 0.810 1.000 1 2012 2012
dbSNP: rs12708716
rs12708716
CLEC16A
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.800 1.000 5 2007 2011
dbSNP: rs11755527
rs11755527
BACH2
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.800 1.000 3 2008 2011