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: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs1555594590
rs1555594590
1 17 58696719 frameshift variant -/A delins 0.700 0
dbSNP: rs730881940
rs730881940
2 1.000 17 58695174 frameshift variant -/A delins 0.700 0
dbSNP: rs1555593521
rs1555593521
1 17 58694983 stop gained -/AATG delins 0.700 0
dbSNP: rs587782699
rs587782699
1 17 58696787 frameshift variant -/TA delins 0.700 0
dbSNP: rs1466185247
rs1466185247
1 17 58709972 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1555603056
rs1555603056
2 1.000 17 58724097 frameshift variant A/- delins 0.700 0
dbSNP: rs876658652
rs876658652
2 1.000 17 58724038 splice acceptor variant A/- del 7.0E-06 0.700 0
dbSNP: rs587780259
rs587780259
4 0.882 0.120 17 58709857 splice acceptor variant A/C;G snv 2.0E-05 2.1E-05 0.700 1.000 6 2011 2016
dbSNP: rs779582317
rs779582317
2 1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05 0.700 1.000 4 2013 2016
dbSNP: rs145310733
rs145310733
2 1.000 17 58703194 splice acceptor variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555593457
rs1555593457
1 17 58694929 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587781490
rs587781490
3 0.925 0.120 17 58696790 stop gained A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs748589398
rs748589398
2 1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0
dbSNP: rs587782170
rs587782170
2 1.000 17 58694970 frameshift variant AA/- delins 0.700 0
dbSNP: rs1555594912
rs1555594912
1 17 58696850 frameshift variant AAGG/- del 0.700 0
dbSNP: rs786202563
rs786202563
1 17 58694999 frameshift variant ACCAA/- delins 0.700 0
dbSNP: rs587781995
rs587781995
3 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs587782286
rs587782286
1 17 58703275 frameshift variant AG/- delins 0.700 0
dbSNP: rs876659497
rs876659497
1 17 58703244 frameshift variant AT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1060502605
rs1060502605
2 1.000 17 58720757 frameshift variant ATCA/-;ATCAATCA delins 0.700 0
dbSNP: rs587782533
rs587782533
1 17 58694943 frameshift variant C/- del 0.700 0
dbSNP: rs387907159
rs387907159
4 0.882 0.200 17 58695182 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 2012 2017
dbSNP: rs587781287
rs587781287
3 0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06 0.700 1.000 4 2012 2016