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: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.100 1.000 11 1995 2020
dbSNP: rs7453920
rs7453920
HLA-DQB2
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.880 0.909 11 2011 2017
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.750 4 2012 2019
dbSNP: rs1042169
rs1042169
HLA-DPA1 ; HLA-DPB1
1 1.000 0.080 6 33080909 missense variant G/A;T snv 0.31; 1.4E-02 0.710 1.000 3 2013 2019
dbSNP: rs2301220
rs2301220
HLA-DPA1
1 1.000 0.080 6 33070989 intron variant C/A;T snv 0.700 1.000 3 2009 2013
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 2010 2019
dbSNP: rs9277542
rs9277542
HLA-DPB1
4 0.851 0.280 6 33087470 3 prime UTR variant T/A;C snv 0.710 1.000 3 2012 2016
dbSNP: rs1431399
rs1431399
HLA-DPA1
1 1.000 0.080 6 33073257 intron variant A/G;T snv 0.700 1.000 2 2011 2013
dbSNP: rs1442820036
rs1442820036
IFNAR2
1 1.000 0.080 21 33246788 missense variant G/A snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2012 2019
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.020 1.000 2 2015 2017
dbSNP: rs31223
rs31223
ITK
2 0.925 0.120 5 157198268 intron variant T/A;C snv 0.020 1.000 2 2014 2019
dbSNP: rs3775290
rs3775290
TLR3
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.020 1.000 2 2016 2019
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.020 1.000 2 2013 2018
dbSNP: rs553665868
rs553665868
HLA-DPA1 ; HLA-DPB1
1 1.000 0.080 6 33080917 missense variant A/G snv 0.700 1.000 2 2013 2013
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.020 1.000 2 2014 2016
dbSNP: rs9277471
rs9277471
HLA-DPB1
1 1.000 0.080 6 33085905 missense variant G/A;C snv 0.32; 4.1E-06 0.710 1.000 2 2013 2016
dbSNP: rs9469341
rs9469341
HLA-DPA1
1 1.000 0.080 6 33068100 3 prime UTR variant A/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1049334
rs1049334
CAV1
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs10853728
rs10853728 		5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10932029
rs10932029
ICOS ; LOC101927840
5 0.827 0.200 2 203937045 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs112120857
rs112120857
APOBEC3C ; APOBEC3F
1 1.000 0.080 22 39018377 missense variant G/C;T snv 5.2E-05; 5.4E-03 0.010 1.000 1 2019 2019