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: rs13415583
rs13415583
AFF3
1 1.000 0.120 2 100147625 intron variant T/G snv 0.37 0.700 1.000 1 2015 2015
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: rs56994090
rs56994090
MEG3
1 1.000 0.120 14 100840110 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2014 2014
dbSNP: rs879228335
rs879228335
MOK
1 1.000 0.120 14 102229329 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2075184
rs2075184 		14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs281432
rs281432
ICAM1
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 0.600 5 2000 2019
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: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs2304256
rs2304256
TYK2
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.800 1.000 2 2010 2011
dbSNP: rs28641753
rs28641753 		2 0.925 0.160 3 104256574 intergenic variant C/T snv 4.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs62131887
rs62131887 		14 0.724 0.240 19 10476920 intergenic variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs9810233
rs9810233 		2 0.925 0.200 3 105292046 intergenic variant A/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1223438908
rs1223438908
CBLB
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752455542
rs752455542
CBLB
2 1.000 0.120 3 105681740 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3772534
rs3772534
CBLB
1 1.000 0.120 3 105702190 synonymous variant C/T snv 3.1E-02 2.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1950942
rs1950942 		1 1.000 0.120 14 105861856 upstream gene variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1358030
rs1358030 		2 0.925 0.120 10 106363841 intergenic variant G/A snv 0.57 0.700 1.000 1 2010 2010
dbSNP: rs11839053
rs11839053 		14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1460002897
rs1460002897
SLC26A3
1 1.000 0.120 7 107793769 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs11074932
rs11074932
CIITA ; LOC105371080
1 1.000 0.120 16 10874479 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2012 2012