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: rs1064793952
rs1064793952
2 1.000 17 35119533 frameshift variant T/- del 0.700 0
dbSNP: rs1064795045
rs1064795045
2 1.000 17 35101326 frameshift variant CTCCCGC/- delins 0.700 0
dbSNP: rs1210620444
rs1210620444
1 17 35103254 splice region variant C/T snv 0.700 0
dbSNP: rs1409088398
rs1409088398
1 17 35103479 frameshift variant -/G delins 0.700 0
dbSNP: rs148690585
rs148690585
2 1.000 17 35118548 stop gained G/A;T snv 1.1E-04 2.7E-04 0.700 0
dbSNP: rs1555567202
rs1555567202
2 1.000 17 35101366 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555567586
rs1555567586
1 17 35103457 frameshift variant C/- delins 0.700 0
dbSNP: rs1555568293
rs1555568293
2 1.000 17 35107005 stop gained G/A snv 0.700 0
dbSNP: rs1555568386
rs1555568386
1 17 35107123 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1555568473
rs1555568473
2 1.000 17 35107368 stop gained G/A snv 0.700 0
dbSNP: rs1555568514
rs1555568514
1 17 35107449 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1555570266
rs1555570266
2 1.000 17 35118535 stop gained TTCAGTTCCTCGTAGAGATC/-;TTCAGTTCCTCGTAGAGATCTTCAGTTCCTCGTAGAGATC delins 0.700 0
dbSNP: rs1555570285
rs1555570285
1 17 35118586 stop gained G/A snv 0.700 0
dbSNP: rs1567726305
rs1567726305
1 17 35103321 stop gained A/T snv 0.700 0
dbSNP: rs1567727934
rs1567727934
1 17 35106454 frameshift variant C/- delins 0.700 0
dbSNP: rs1567735277
rs1567735277
1 17 35118510 frameshift variant C/- delins 0.700 0
dbSNP: rs587781527
rs587781527
2 1.000 17 35103466 stop gained GACCTCC/AACCTCA mnv 0.700 0
dbSNP: rs587782695
rs587782695
2 1.000 17 35106415 stop gained G/A snv 0.700 0
dbSNP: rs730881943
rs730881943
1 17 35107440 frameshift variant -/TA ins 0.700 0
dbSNP: rs730882119
rs730882119
2 1.000 17 35107384 frameshift variant -/G delins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs773906955
rs773906955
1 17 35107026 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs786202179
rs786202179
1 17 35118564 frameshift variant TTCACGGGGAAAGCCG/- del 0.700 0
dbSNP: rs786202251
rs786202251
2 1.000 17 35101206 frameshift variant G/- delins 0.700 0
dbSNP: rs786202434
rs786202434
2 1.000 17 35107380 frameshift variant -/A delins 0.700 0
dbSNP: rs786202788
rs786202788
1 17 35119531 splice donor variant C/A;T snv 0.700 0