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: rs1057516264
rs1057516264
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057516319
rs1057516319
1 1.000 0.120 11 6615449 stop gained G/T snv 0.700 0
dbSNP: rs1057516366
rs1057516366
1 1.000 0.120 11 6617052 frameshift variant -/A delins 0.700 0
dbSNP: rs1057516511
rs1057516511
1 1.000 0.120 11 6614687 splice acceptor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1057516579
rs1057516579
1 1.000 0.120 11 6614576 frameshift variant -/G delins 0.700 0
dbSNP: rs1057516667
rs1057516667
1 1.000 0.120 11 6617777 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1057516945
rs1057516945
2 0.925 0.160 11 6616973 splice donor variant A/C snv 0.700 0
dbSNP: rs1057517313
rs1057517313
1 1.000 0.120 11 6616728 frameshift variant G/- delins 0.700 0
dbSNP: rs113019349
rs113019349
2 0.925 0.120 11 6616004 splice donor variant C/G;T snv 0.700 0
dbSNP: rs119455953
rs119455953
1 1.000 0.120 11 6616057 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs119455956
rs119455956
2 0.925 0.120 11 6615256 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1407106889
rs1407106889
1 1.000 0.120 11 6615203 frameshift variant GT/- delins 0.700 0
dbSNP: rs1554901463
rs1554901463
1 1.000 0.120 11 6614617 frameshift variant GACCAGAGCAG/- delins 0.700 0
dbSNP: rs1554901576
rs1554901576
1 1.000 0.120 11 6615228 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554901580
rs1554901580
1 1.000 0.120 11 6615251 inframe insertion -/CGGCCACTGGCA delins 0.700 0
dbSNP: rs1554901731
rs1554901731
1 1.000 0.120 11 6616075 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554901898
rs1554901898
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1554902043
rs1554902043
1 1.000 0.120 11 6617386 stop gained -/T delins 0.700 0
dbSNP: rs1554902217
rs1554902217
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs1564854729
rs1564854729
1 1.000 0.120 11 6616052 stop gained C/T snv 0.700 0
dbSNP: rs1564855725
rs1564855725
5 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
dbSNP: rs553522118
rs553522118
5 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
dbSNP: rs757953998
rs757953998
1 1.000 0.120 11 6616750 missense variant C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs765380155
rs765380155
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.800 0
dbSNP: rs779615685
rs779615685
1 1.000 0.120 11 6619383 splice donor variant C/G;T snv 0.700 0