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: rs1010273
rs1010273
PRDM1 ; ATG5
3 0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs10168266
rs10168266
STAT4
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.040 1.000 4 2014 2019
dbSNP: rs10214910
rs10214910
HLA-DPA1
1 1.000 0.080 6 33069898 intron variant C/A snv 0.23 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10243492
rs10243492 		1 1.000 0.080 7 32780825 intergenic variant A/G snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2014 2014
dbSNP: rs10272859
rs10272859
CDK14
4 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.700 1.000 1 2018 2018
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: rs1042190
rs1042190
HLA-DPA1
1 1.000 0.080 6 33069222 missense variant T/C snv 0.24 0.28 0.700 1.000 1 2013 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: rs1042544
rs1042544
HLA-DPB1
2 0.925 0.200 6 33086680 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10484569
rs10484569 		1 1.000 0.080 6 33091175 downstream gene variant G/A snv 5.9E-02 0.700 1.000 2 2009 2011
dbSNP: rs10485138
rs10485138
ASCC3
1 1.000 0.080 6 100690714 intron variant C/T snv 2.5E-02 0.010 1.000 1 2015 2015
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: rs1049606
rs1049606
CCND2 ; CCND2-AS1
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.030 0.667 3 2017 2019
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1076064
rs1076064
PPARGC1B ; MIR378A
4 0.851 0.160 5 149732603 intron variant A/G snv 0.47 0.010 1.000 1 2014 2014
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: rs10912564
rs10912564
TNFSF4
1 1.000 0.080 1 173201479 intron variant C/T snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs10918706
rs10918706
CD247
2 0.925 0.200 1 167496884 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
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