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: rs778664039
rs778664039
3 0.925 0.240 17 61683653 frameshift variant AGAT/- delins 3.6E-05 7.0E-06 0.700 0
dbSNP: rs779741278
rs779741278
2 0.925 0.240 17 61683805 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 2010 2016
dbSNP: rs730881645
rs730881645
4 0.882 0.280 17 61683850 frameshift variant A/- del 2.0E-05 5.6E-05 0.700 1.000 4 2010 2015
dbSNP: rs786203717
rs786203717
3 0.925 0.240 17 61684051 frameshift variant CTTT/- delins 1.6E-05 2.8E-05 0.700 1.000 3 2008 2018
dbSNP: rs771028677
rs771028677
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 1.000 3 2008 2016
dbSNP: rs876660203
rs876660203
4 0.882 0.280 17 61685835 splice donor variant C/T snv 0.700 0
dbSNP: rs761639530
rs761639530
2 0.925 0.240 17 61685874 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs140233356
rs140233356
2 0.925 0.240 17 61685911 stop gained G/A;C snv 4.0E-06; 2.8E-04 0.700 0
dbSNP: rs587782410
rs587782410
4 0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05 0.700 1.000 3 2015 2016
dbSNP: rs137852986
rs137852986
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 12 2005 2016
dbSNP: rs1567779336
rs1567779336
1 1.000 0.120 17 61743013 missense variant C/A snv 0.700 0
dbSNP: rs587782574
rs587782574
4 0.882 0.280 17 61743015 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs1555590388
rs1555590388
2 0.925 0.240 17 61743050 frameshift variant -/T delins 0.700 0
dbSNP: rs587780236
rs587780236
4 0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1064793887
rs1064793887
2 0.925 0.240 17 61743135 splice acceptor variant C/T snv 0.700 0
dbSNP: rs730881649
rs730881649
4 0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05 0.700 1.000 5 2005 2016
dbSNP: rs864622611
rs864622611
3 0.925 0.240 17 61744571 frameshift variant CTTTT/- delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057517643
rs1057517643
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs2191249
rs2191249
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs876659533
rs876659533
3 0.925 0.240 17 61776445 stop gained G/A snv 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs587778134
rs587778134
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
dbSNP: rs587781321
rs587781321
4 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2016
dbSNP: rs587781985
rs587781985
4 0.882 0.280 17 61780342 frameshift variant -/C ins 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs780020495
rs780020495
4 0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs1057519365
rs1057519365
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2016