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: rs267606999
rs267606999
3 0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05 0.700 1.000 11 2010 2017
dbSNP: rs200293302
rs200293302
4 0.882 0.200 17 58703201 stop gained C/T snv 4.0E-05 0.700 1.000 8 2012 2017
dbSNP: rs587782702
rs587782702
3 0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05 0.700 1.000 7 2010 2015
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: rs767796996
rs767796996
3 0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06 0.700 1.000 6 2012 2017
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: rs267606997
rs267606997
2 0.882 0.120 17 58709926 missense variant G/A snv 4.4E-05; 1.6E-05 2.1E-05 0.700 1.000 4 2010 2016
dbSNP: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs770637624
rs770637624
4 0.882 0.200 17 58709862 stop gained C/T snv 1.6E-05 1.4E-05 0.700 1.000 3 2014 2017
dbSNP: rs746993675
rs746993675
1 17 58696785 frameshift variant T/- delins 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs1413872299
rs1413872299
2 1.000 17 58703195 splice acceptor variant G/C;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1555602141
rs1555602141
3 0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs587782818
rs587782818
3 0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs760235677
rs760235677
3 0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs876659497
rs876659497
1 17 58703244 frameshift variant AT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1060502588
rs1060502588
1 17 58703316 stop gained C/G;T snv 0.700 0
dbSNP: rs1060502601
rs1060502601
4 0.882 0.200 17 58709884 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502605
rs1060502605
2 1.000 17 58720757 frameshift variant ATCA/-;ATCAATCA delins 0.700 0
dbSNP: rs1327086366
rs1327086366
3 0.925 0.200 17 58696858 splice donor variant G/- delins 4.0E-06 0.700 0
dbSNP: rs145310733
rs145310733
2 1.000 17 58703194 splice acceptor variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1466185247
rs1466185247
1 17 58709972 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1555593450
rs1555593450
1 17 58694927 splice acceptor variant TCA/- del 0.700 0
dbSNP: rs1555593457
rs1555593457
1 17 58694929 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555593521
rs1555593521
1 17 58694983 stop gained -/AATG delins 0.700 0
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0