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: rs587781410
rs587781410
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 6 2012 2017
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: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs1555605103
rs1555605103
1 17 58732536 stop gained C/T snv 0.700 1.000 2 2011 2013
dbSNP: rs730881941
rs730881941
2 1.000 17 58724037 splice acceptor variant CAGGG/- del 0.700 1.000 2 2013 2015
dbSNP: rs1555602141
rs1555602141
3 0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555605074
rs1555605074
2 1.000 17 58732512 stop gained C/T snv 0.700 1.000 1 2017 2017
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: 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
dbSNP: rs1555593670
rs1555593670
1 17 58695062 stop gained C/T snv 0.700 0
dbSNP: rs1555594590
rs1555594590
1 17 58696719 frameshift variant -/A delins 0.700 0
dbSNP: rs1555594912
rs1555594912
1 17 58696850 frameshift variant AAGG/- del 0.700 0
dbSNP: rs1555597132
rs1555597132
1 17 58703245 frameshift variant TATT/- delins 0.700 0
dbSNP: rs1555599090
rs1555599090
1 17 58709858 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555599288
rs1555599288
2 1.000 17 58709991 splice donor variant G/- del 0.700 0
dbSNP: rs1555602159
rs1555602159
1 17 58720813 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1555603056
rs1555603056
2 1.000 17 58724097 frameshift variant A/- delins 0.700 0
dbSNP: rs1567786326
rs1567786326
1 17 58695099 stop gained C/G snv 0.700 0
dbSNP: rs1567799818
rs1567799818
2 1.000 17 58709955 stop gained C/T snv 0.700 0