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: rs74315370
rs74315370
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.800 1.000 17 2001 2017
dbSNP: rs74315366
rs74315366
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 10 2001 2014
dbSNP: rs80338843
rs80338843
6 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2000 2015
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 8 2006 2012
dbSNP: rs104894306
rs104894306
4 0.882 0.200 11 112087868 stop gained C/T snv 0.700 1.000 7 2001 2012
dbSNP: rs104894308
rs104894308
4 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
dbSNP: rs751000085
rs751000085
4 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 0.700 1.000 5 2006 2017
dbSNP: rs1050032491
rs1050032491
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs104894309
rs104894309
7 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
dbSNP: rs121908818
rs121908818
2 0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06 0.700 1.000 2 2010 2010
dbSNP: rs876658461
rs876658461
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs104894305
rs104894305
4 0.851 0.240 11 112087899 stop gained C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1060503770
rs1060503770
5 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2006 2006
dbSNP: rs1131691065
rs1131691065
4 0.882 0.200 11 112089011 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs878854575
rs878854575
4 0.882 0.080 1 17033075 stop gained T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs104894310
rs104894310
2 1.000 0.040 11 112086921 stop gained G/A snv 0.700 0
dbSNP: rs1060503753
rs1060503753
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1060503759
rs1060503759
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1060503763
rs1060503763
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1060503769
rs1060503769
2 0.925 0.160 11 112094805 stop gained G/A snv 0.700 0
dbSNP: rs121908815
rs121908815
1 1.000 0.040 2 96265306 stop gained G/A snv 0.700 0
dbSNP: rs121908829
rs121908829
1 1.000 0.040 2 96254078 stop gained C/T snv 0.700 0
dbSNP: rs121908830
rs121908830
3 0.925 0.040 2 96254050 stop gained G/A snv 0.700 0