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: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1051738
rs1051738
1 1.000 0.040 19 10467167 missense variant C/A;T snv 0.17; 4.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs10748781
rs10748781
11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11053802
rs11053802
1 1.000 0.040 12 10444608 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11098964
rs11098964
5 0.827 0.120 4 79966815 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11306716
rs11306716
5 0.827 0.120 2 203843041 intergenic variant T/-;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs1131017
rs1131017
5 0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04 0.700 1.000 1 2015 2015
dbSNP: rs114934997
rs114934997
1 1.000 0.040 5 40370622 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11574938
rs11574938
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs11575234
rs11575234
1 1.000 0.040 12 56350492 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11676348
rs11676348
8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
5 0.827 0.120 5 10521556 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11938228
rs11938228
4 0.882 0.120 4 153700794 intron variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs12044149
rs12044149
2 0.925 0.080 1 67135003 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs1249564
rs1249564
1 1.000 0.040 1 160466663 regulatory region variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12602912
rs12602912
2 1.000 0.040 17 67873957 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1267499
rs1267499
6 0.807 0.160 6 14715651 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1284037740
rs1284037740
1 1.000 0.040 3 122337642 synonymous variant C/T snv 0.010 1.000 1 2008 2008