Gene: NF2 ×
Source: ALL
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: rs1555978356
rs1555978356
NF2
1 1.000 0.160 22 29604041 stop gained A/T snv 0.700 0
dbSNP: rs1555978369
rs1555978369
NF2
1 1.000 0.160 22 29604056 frameshift variant AAGA/GT delins 0.700 0
dbSNP: rs1555986860
rs1555986860
NF2
1 1.000 0.160 22 29636758 stop gained G/A snv 0.700 1.000 3 1998 2016
dbSNP: rs121434259
rs121434259
NF2
2 0.925 0.160 22 29636805 stop gained C/T snv 0.700 1.000 5 1993 2018
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: rs121434261
rs121434261
NF2
1 1.000 0.160 22 29636821 missense variant T/C snv 0.810 1.000 18 1993 2017
dbSNP: rs587776562
rs587776562
NF2
1 1.000 0.160 22 29636877 splice donor variant G/T snv 0.700 0
dbSNP: rs1555987647
rs1555987647
NF2
1 1.000 0.160 22 29639122 frameshift variant A/- del 0.700 0
dbSNP: rs121434260
rs121434260
NF2
1 1.000 0.160 22 29639134 inframe deletion CTT/- delins 0.700 0
dbSNP: rs1555987732
rs1555987732
NF2
1 1.000 0.160 22 29639201 inframe deletion CTT/- delins 0.700 0
dbSNP: rs1060503667
rs1060503667
NF2
1 1.000 0.160 22 29642270 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1555992948
rs1555992948
NF2
1 1.000 0.160 22 29654671 frameshift variant C/- delins 0.700 0
dbSNP: rs1569293488
rs1569293488
NF2
1 1.000 0.160 22 29654727 splice donor variant T/G snv 0.700 1.000 2 1998 2007
dbSNP: rs1060503670
rs1060503670
NF2
1 1.000 0.160 22 29655592 splice acceptor variant A/G snv 0.700 0
dbSNP: rs74315495
rs74315495
NF2
1 1.000 0.160 22 29655621 stop gained G/T snv 0.700 0
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: rs1555993336
rs1555993336
NF2
1 1.000 0.160 22 29655663 stop gained C/T snv 0.700 1.000 6 1995 2016
dbSNP: rs1555993345
rs1555993345
NF2
1 1.000 0.160 22 29655669 stop gained C/T snv 0.700 1.000 5 1995 2015
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: rs1555994854
rs1555994854
NF2
1 1.000 0.160 22 29658265 splice donor variant G/A;C snv 0.700 1.000 2 1998 2007
dbSNP: rs1060503666
rs1060503666
NF2
1 1.000 0.160 22 29661203 splice acceptor variant A/G snv 0.700 0
dbSNP: rs74315496
rs74315496
NF2
2 1.000 0.160 22 29661313 stop gained C/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