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: 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: 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: 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: rs587778134
rs587778134
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
dbSNP: rs587780226
rs587780226
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 1.000 4 2016 2017
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: rs779741278
rs779741278
2 0.925 0.240 17 61683805 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 2010 2016
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: 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: rs786202610
rs786202610
3 0.925 0.240 17 61808495 frameshift variant T/- delins 0.700 1.000 3 2015 2016
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: rs1057519365
rs1057519365
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2016
dbSNP: rs587780228
rs587780228
4 0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05 0.700 1.000 2 2016 2016
dbSNP: rs587781292
rs587781292
4 0.882 0.280 17 61859868 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2014 2015
dbSNP: rs1555616143
rs1555616143
4 0.882 0.280 17 61849155 frameshift variant TTCTT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555618709
rs1555618709
3 0.925 0.240 17 61861461 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs34289250
rs34289250
2 0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs587780224
rs587780224
3 0.925 0.240 17 61801266 frameshift variant TG/- delins 4.0E-06 0.700 1.000 1 2016 2016
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: rs587781985
rs587781985
4 0.882 0.280 17 61780342 frameshift variant -/C ins 4.0E-06 0.700 1.000 1 2016 2016
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: rs786203700
rs786203700
4 0.882 0.280 17 61857233 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs864622277
rs864622277
3 0.925 0.240 17 61847221 splice acceptor variant C/G snv 0.700 1.000 1 2016 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: rs876659533
rs876659533
3 0.925 0.240 17 61776445 stop gained G/A snv 2.1E-05 0.700 1.000 1 2018 2018