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: rs730881942
rs730881942
4 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 5 2011 2016
dbSNP: rs587782528
rs587782528
4 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs757128712
rs757128712
2 1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 3 2010 2015
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: rs587782533
rs587782533
1 17 58694943 frameshift variant C/- del 0.700 0
dbSNP: rs786203945
rs786203945
2 1.000 17 58694964 frameshift variant CT/- delins 0.700 0
dbSNP: rs587782170
rs587782170
2 1.000 17 58694970 frameshift variant AA/- delins 0.700 0
dbSNP: rs1555593521
rs1555593521
1 17 58694983 stop gained -/AATG delins 0.700 0
dbSNP: rs786202563
rs786202563
1 17 58694999 frameshift variant ACCAA/- delins 0.700 0
dbSNP: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0
dbSNP: rs1555593670
rs1555593670
1 17 58695062 stop gained C/T snv 0.700 0
dbSNP: rs1567786326
rs1567786326
1 17 58695099 stop gained C/G snv 0.700 0
dbSNP: rs730881940
rs730881940
2 1.000 17 58695174 frameshift variant -/A delins 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: 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: rs730881931
rs730881931
3 0.925 17 58695191 splice donor variant T/C snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs587782036
rs587782036
3 0.925 17 58696692 splice acceptor variant G/A;C snv 0.700 0
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: rs1555594590
rs1555594590
1 17 58696719 frameshift variant -/A delins 0.700 0
dbSNP: rs746993675
rs746993675
1 17 58696785 frameshift variant T/- delins 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs587782699
rs587782699
1 17 58696787 frameshift variant -/TA delins 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: rs1555594912
rs1555594912
1 17 58696850 frameshift variant AAGG/- del 0.700 0