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: rs1057516894
rs1057516894
1 1.000 0.080 1 97098501 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516997
rs1057516997
1 1.000 0.080 1 97699508 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517018
rs1057517018
1 1.000 0.080 1 97515795 frameshift variant T/- del 0.700 0
dbSNP: rs1057517055
rs1057517055
1 1.000 0.080 1 97373616 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517065
rs1057517065
1 1.000 0.080 1 97691715 splice donor variant A/G;T snv 0.700 0
dbSNP: rs1057517095
rs1057517095
1 1.000 0.080 1 97193068 splice donor variant C/T snv 0.700 0
dbSNP: rs1057517126
rs1057517126
1 1.000 0.080 1 97549559 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057517189
rs1057517189
1 1.000 0.080 1 97573788 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517230
rs1057517230
1 1.000 0.080 1 97098507 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1057517271
rs1057517271
1 1.000 0.080 1 97193137 stop gained G/A snv 0.700 0
dbSNP: rs1057517327
rs1057517327
1 1.000 0.080 1 97193101 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517396
rs1057517396
1 1.000 0.080 1 97373579 frameshift variant -/A delins 0.700 0
dbSNP: rs1207177925
rs1207177925
1 1.000 0.080 1 97883280 frameshift variant GGATTTCT/- del 7.0E-06 0.700 0
dbSNP: rs1220608789
rs1220608789
1 1.000 0.080 1 97699373 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1300669537
rs1300669537
1 1.000 0.080 1 97679184 splice acceptor variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1553197926
rs1553197926
1 1.000 0.080 1 97573921 frameshift variant G/- delins 0.700 0
dbSNP: rs1553201443
rs1553201443
1 1.000 0.080 1 97593225 frameshift variant G/- delins 0.700 0
dbSNP: rs1553212596
rs1553212596
1 1.000 0.080 1 97098533 stop gained T/A snv 0.700 0
dbSNP: rs1553247675
rs1553247675
1 1.000 0.080 1 97828113 splice donor variant C/A snv 0.700 0
dbSNP: rs1553251903
rs1553251903
1 1.000 0.080 1 97306176 splice region variant CCTT/- delins 0.700 0
dbSNP: rs1553251907
rs1553251907
1 1.000 0.080 1 97306178 frameshift variant T/- delins 0.700 0
dbSNP: rs1801267
rs1801267
1 1.000 0.080 1 97098598 missense variant C/T snv 4.4E-05 2.8E-05 0.700 0
dbSNP: rs189768576
rs189768576
1 1.000 0.080 1 97828127 stop gained G/A snv 1.3E-04 6.3E-05 0.700 0
dbSNP: rs759372918
rs759372918
1 1.000 0.080 1 97305283 stop gained G/A snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs764584080
rs764584080
1 1.000 0.080 1 97515739 frameshift variant A/- delins 0.700 0