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: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2280714
rs2280714
TNPO3
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs3117230
rs3117230 		3 0.882 0.200 6 33107858 upstream gene variant A/G snv 0.28 0.710 1.000 1 2009 2009
dbSNP: rs3128930
rs3128930 		3 0.925 0.120 6 33107889 upstream gene variant C/T snv 0.31 0.710 1.000 1 2009 2009
dbSNP: rs3128965
rs3128965
HLA-DPB1
3 0.882 0.280 6 33088122 3 prime UTR variant G/A snv 0.14 0.710 1.000 1 2009 2009
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2009 2009
dbSNP: rs7763822
rs7763822
HLA-DPA2
1 1.000 0.040 6 33092651 intron variant C/T snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs7764491
rs7764491
HLA-DPA2
1 1.000 0.040 6 33093063 non coding transcript exon variant C/G snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs2056626
rs2056626
CD247
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2010 2019
dbSNP: rs3821236
rs3821236
STAT4
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 3 2010 2019
dbSNP: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.020 1.000 2 2010 2011
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.020 1.000 2 2010 2011
dbSNP: rs2205960
rs2205960
TNFSF4
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs443198
rs443198
NOTCH4
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.020 1.000 2 2010 2017
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs844648
rs844648
TNFSF4 ; LOC100506023
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.020 1.000 2 2010 2012
dbSNP: rs9275390
rs9275390 		3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.800 1.000 2 2010 2011
dbSNP: rs1035798
rs1035798
AGER
1 1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19 0.700 1.000 1 2010 2010
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs10744676
rs10744676
KCNA5
2 0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88 0.010 1.000 1 2010 2010
dbSNP: rs10954213
rs10954213
IRF5
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010