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: rs1567779336
rs1567779336
1 1.000 0.120 17 61743013 missense variant C/A snv 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: 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: rs1064793887
rs1064793887
2 0.925 0.240 17 61743135 splice acceptor variant C/T snv 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: rs1555590388
rs1555590388
2 0.925 0.240 17 61743050 frameshift variant -/T delins 0.700 0
dbSNP: rs1555603635
rs1555603635
2 0.925 0.240 17 61784423 splice acceptor variant CTATAAGAAATTACC/- delins 0.700 0
dbSNP: rs1555605955
rs1555605955
2 0.925 0.240 17 61793710 stop gained C/A snv 0.700 0
dbSNP: rs1555607792
rs1555607792
2 0.925 0.240 17 61801458 frameshift variant AATA/- delins 0.700 0
dbSNP: rs1555618727
rs1555618727
2 0.925 0.240 17 61861500 stop gained T/A 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: 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: rs1555618709
rs1555618709
3 0.925 0.240 17 61861461 frameshift variant -/A delins 0.700 1.000 1 2015 2015
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: rs587780224
rs587780224
3 0.925 0.240 17 61801266 frameshift variant TG/- delins 4.0E-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
dbSNP: rs1057517643
rs1057517643
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs763009188
rs763009188
3 0.925 0.240 17 61857144 frameshift variant TTGT/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs768736851
rs768736851
3 0.925 0.240 17 61793641 frameshift variant TTAAG/- delins 4.1E-06 0.700 0
dbSNP: rs778664039
rs778664039
3 0.925 0.240 17 61683653 frameshift variant AGAT/- delins 3.6E-05 7.0E-06 0.700 0
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