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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2007 2009
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2009
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2009 2011
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2007 2009
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs2234767
rs2234767
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs2250889
rs2250889
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs2303426
rs2303426
8 0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47 0.010 1.000 1 2011 2011
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs3824260
rs3824260
11 0.742 0.160 8 58500631 upstream gene variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4595552
rs4595552
7 0.790 0.080 11 125865825 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6557634
rs6557634
11 0.763 0.080 8 23202743 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs752742313
rs752742313
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs775066324
rs775066324
7 0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs779162432
rs779162432
7 0.790 0.080 2 169637315 missense variant A/G snv 4.1E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs909629195
rs909629195
7 0.790 0.080 17 38914448 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs951540403
rs951540403
7 0.790 0.080 10 94132433 missense variant G/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1444424830
rs1444424830
7 0.790 0.080 7 151078923 missense variant C/T snv 4.6E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009