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: rs398124530
rs398124530
1 1.000 0.080 17 17214990 stop gained C/T snv 0.700 1.000 6 2005 2015
dbSNP: rs398124532
rs398124532
1 1.000 0.080 17 17213798 stop gained G/A;C snv 0.700 1.000 5 2006 2012
dbSNP: rs587782069
rs587782069
3 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2016
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs879255683
rs879255683
1 1.000 0.080 17 17213816 stop gained G/A snv 1.4E-05 0.700 1.000 5 2005 2015
dbSNP: rs137852929
rs137852929
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 3 2002 2008
dbSNP: rs368778627
rs368778627
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 1.000 2 2008 2012
dbSNP: rs1490424623
rs1490424623
1 1.000 0.080 17 17219194 stop gained G/C snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1567819834
rs1567819834
1 1.000 0.080 17 17224030 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs398124524
rs398124524
2 1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs398124536
rs398124536
2 1.000 0.080 17 17226226 stop gained G/A;T snv 5.6E-05 0.700 1.000 1 2008 2008
dbSNP: rs398124538
rs398124538
1 1.000 0.080 17 17223929 stop gained GC/TA mnv 0.700 1.000 1 2010 2010
dbSNP: rs1254608489
rs1254608489
1 1.000 0.080 17 17228017 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs1266098984
rs1266098984
1 1.000 0.080 17 17216380 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs558699420
rs558699420
1 1.000 0.080 17 17222646 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs754616167
rs754616167
2 1.000 0.080 17 17228105 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs876658409
rs876658409
2 1.000 0.080 17 17223983 stop gained C/A;T snv 0.700 0
dbSNP: rs879255663
rs879255663
1 1.000 0.080 17 17222528 stop gained C/T snv 0.700 0
dbSNP: rs879255667
rs879255667
1 1.000 0.080 17 17221555 stop gained G/A snv 0.700 0
dbSNP: rs879255668
rs879255668
2 1.000 0.080 17 17219206 stop gained A/C snv 0.700 0
dbSNP: rs879255672
rs879255672
1 1.000 0.080 17 17217147 stop gained C/T snv 0.700 0
dbSNP: rs879255682
rs879255682
1 1.000 0.080 17 17214991 stop gained C/T snv 0.700 0
dbSNP: rs199643834
rs199643834
6 0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 0.710 1.000 3 2013 2017
dbSNP: rs876657646
rs876657646
1 1.000 0.080 17 17223987 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs879255664
rs879255664
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017