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: rs1555993301
rs1555993301
NF2
1 1.000 0.160 22 29655633 frameshift variant GA/- delins 0.700 0
dbSNP: rs1555993313
rs1555993313
NF2
1 1.000 0.160 22 29655640 frameshift variant TT/- del 0.700 0
dbSNP: rs1555993352
rs1555993352
NF2
1 1.000 0.160 22 29655677 splice donor variant G/T snv 0.700 0
dbSNP: rs1555994819
rs1555994819
NF2
1 1.000 0.160 22 29658245 frameshift variant -/A ins 0.700 0
dbSNP: rs1555998851
rs1555998851
NF2
1 1.000 0.160 22 29668415 frameshift variant C/- delins 0.700 0
dbSNP: rs1556001351
rs1556001351
NF2
1 1.000 0.160 22 29674840 frameshift variant AA/- delins 0.700 0
dbSNP: rs1556002457
rs1556002457
NF2
1 1.000 0.160 22 29678194 splice acceptor variant A/- del 0.700 0
dbSNP: rs1556002536
rs1556002536
NF2
1 1.000 0.160 22 29678255 frameshift variant -/G delins 0.700 0
dbSNP: rs1556002568
rs1556002568
NF2
1 1.000 0.160 22 29678299 missense variant T/C snv 0.700 0
dbSNP: rs1556003799
rs1556003799
NF2
1 1.000 0.160 22 29681602 splice donor variant G/T snv 0.700 0
dbSNP: rs1556003801
rs1556003801
NF2
1 1.000 0.160 22 29681603 splice donor variant T/A snv 0.700 0
dbSNP: rs587776562
rs587776562
NF2
1 1.000 0.160 22 29636877 splice donor variant G/T snv 0.700 0
dbSNP: rs74315495
rs74315495
NF2
1 1.000 0.160 22 29655621 stop gained G/T snv 0.700 0
dbSNP: rs74315496
rs74315496
NF2
2 1.000 0.160 22 29661313 stop gained C/T snv 0.700 0
dbSNP: rs74315497
rs74315497
NF2
1 1.000 0.160 22 29668405 stop gained C/T snv 0.700 0
dbSNP: rs74315499
rs74315499
NF2
1 1.000 0.160 22 29671847 stop gained C/G;T snv 0.700 0
dbSNP: rs74315501
rs74315501
NF2
1 1.000 0.160 22 29673365 stop gained C/T snv 0.700 0
dbSNP: rs74315505
rs74315505
NF2
1 1.000 0.160 22 29681443 stop gained G/T snv 0.700 0
dbSNP: rs766974263
rs766974263
NF2
1 1.000 0.160 22 29673383 missense variant A/G snv 4.1E-06 0.700 0
dbSNP: rs780872661
rs780872661
NF2
1 1.000 0.160 22 29636816 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs878853925
rs878853925
NF2
1 1.000 0.160 22 29681491 stop gained A/T snv 0.700 0
dbSNP: rs917257652
rs917257652
NF2
1 1.000 0.160 22 29661327 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 0