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: 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
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
dbSNP: rs1567799943
rs1567799943
3 0.925 0.200 17 58709992 splice donor variant T/C 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: rs587782036
rs587782036
3 0.925 17 58696692 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs587782170
rs587782170
2 1.000 17 58694970 frameshift variant AA/- delins 0.700 0
dbSNP: rs587782286
rs587782286
1 17 58703275 frameshift variant AG/- delins 0.700 0