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: rs11123810
rs11123810
AFF3
2 0.925 0.200 2 100142823 intron variant T/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs13015714
rs13015714
IL18R1
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.810 1.000 2 2008 2009
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.830 1.000 4 2009 2015
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: rs990171
rs990171 		2 1.000 0.080 2 102470310 upstream gene variant A/C snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs1468788
rs1468788
SLC9A4
2 1.000 0.080 2 102476054 intron variant C/T snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2008
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2006 2006
dbSNP: rs9391227
rs9391227 		1 1.000 0.080 6 104710759 regulatory region variant T/A snv 0.56 0.010 1.000 1 2011 2011
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: 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: rs6498114
rs6498114
CIITA ; LOC105371080
2 1.000 0.080 16 10870261 intron variant G/T snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs7104791
rs7104791 		1 1.000 0.080 11 111326133 downstream gene variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.810 1.000 2 2011 2015
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.810 1.000 3 2008 2011
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs12928822
rs12928822
RMI2 ; LOC105371082
5 0.882 0.200 16 11310036 intron variant C/T snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 2 2015 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs4946111
rs4946111 		1 1.000 0.080 6 115663255 intergenic variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2007 2007