Gene: NF1 ×
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: rs1060500320
rs1060500320
NF1
1 1.000 0.120 17 31156019 frameshift variant A/- delins 0.700 0
dbSNP: rs1060500321
rs1060500321
NF1
1 1.000 0.120 17 31159008 splice region variant GA/- delins 0.700 0
dbSNP: rs1060500323
rs1060500323
NF1
1 1.000 0.120 17 31182532 inframe deletion TGG/- delins 0.700 0
dbSNP: rs1060500327
rs1060500327
NF1
1 1.000 0.120 17 31352405 frameshift variant A/- delins 0.700 0
dbSNP: rs1060500333
rs1060500333
NF1
1 1.000 0.120 17 31357319 stop gained T/G snv 0.700 0
dbSNP: rs1060500335
rs1060500335
NF1
1 1.000 0.120 17 31350234 frameshift variant G/- del 0.700 0
dbSNP: rs1060500338
rs1060500338
NF1
1 1.000 0.120 17 31337427 frameshift variant TT/- del 0.700 0
dbSNP: rs1060500342
rs1060500342
NF1
1 1.000 0.120 17 31337861 missense variant T/C snv 0.700 0
dbSNP: rs1060500344
rs1060500344
NF1
1 1.000 0.120 17 31338138 missense variant A/G;T snv 0.700 0
dbSNP: rs1060500346
rs1060500346
NF1
1 1.000 0.120 17 31235614 stop gained G/T snv 0.700 0
dbSNP: rs1060500347
rs1060500347
NF1
1 1.000 0.120 17 31206371 splice donor variant G/- delins 0.700 0
dbSNP: rs1060500349
rs1060500349
NF1
1 1.000 0.120 17 31334949 frameshift variant T/- delins 0.700 0
dbSNP: rs1060500352
rs1060500352
NF1
1 1.000 0.120 17 31214590 splice region variant G/A;C;T snv 0.700 0
dbSNP: rs1060500353
rs1060500353
NF1
1 1.000 0.120 17 31330385 frameshift variant T/- del 0.700 0
dbSNP: rs1060500354
rs1060500354
NF1
1 1.000 0.120 17 31334932 frameshift variant -/TA delins 0.700 0
dbSNP: rs1060500355
rs1060500355
NF1
1 1.000 0.120 17 31338806 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1060500356
rs1060500356
NF1
1 1.000 0.120 17 31338024 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1060500357
rs1060500357
NF1
1 1.000 0.120 17 31229463 stop gained C/T snv 0.700 0
dbSNP: rs1060500358
rs1060500358
NF1
1 1.000 0.120 17 31201035 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1060500359
rs1060500359
NF1
1 1.000 0.120 17 31340598 stop gained G/T snv 0.700 0
dbSNP: rs1060500363
rs1060500363
NF1
1 1.000 0.120 17 31156001 stop gained C/T snv 0.700 0
dbSNP: rs1060500364
rs1060500364
NF1
1 1.000 0.120 17 31226502 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500370
rs1060500370
NF1
1 1.000 0.120 17 31248983 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1060500374
rs1060500374
NF1
1 1.000 0.120 17 31233128 stop gained T/A;C snv 0.700 0
dbSNP: rs1060500385
rs1060500385
NF1
1 1.000 0.120 17 31349244 stop gained C/G;T snv 4.0E-06 0.700 0