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: rs1060500387
rs1060500387
NF1
2 1.000 0.120 17 31358566 frameshift variant AG/- delins 0.700 0
dbSNP: rs1085307461
rs1085307461
NF1
1 17 31219048 frameshift variant A/- delins 0.700 0
dbSNP: rs1131691068
rs1131691068
NF1
1 17 31219027 frameshift variant AACCCAAGGCAGTA/- delins 0.700 0
dbSNP: rs1131691069
rs1131691069
NF1
1 17 31229096 frameshift variant T/- delins 0.700 0
dbSNP: rs1131691071
rs1131691071
NF1
1 17 31337463 frameshift variant CATTGCCTTCCGT/- delins 0.700 0
dbSNP: rs1131691072
rs1131691072
NF1
1 17 31258365 stop gained C/T snv 0.700 0
dbSNP: rs1131691076
rs1131691076
NF1
1 17 31337509 frameshift variant GC/- del 0.700 0
dbSNP: rs1131691077
rs1131691077
NF1
2 1.000 0.120 17 31235916 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1131691078
rs1131691078
NF1
1 17 31229367 frameshift variant A/- delins 0.700 0
dbSNP: rs1131691081
rs1131691081
NF1
1 17 31330311 frameshift variant TCTTCT/G;TCT delins 0.700 0
dbSNP: rs1131691082
rs1131691082
NF1
1 17 31343047 frameshift variant G/- delins 0.700 0
dbSNP: rs1131691083
rs1131691083
NF1
1 17 31340610 frameshift variant ATAC/- delins 0.700 0
dbSNP: rs1131691084
rs1131691084
NF1
2 1.000 0.120 17 31337517 frameshift variant GAGA/-;GA delins 0.700 0
dbSNP: rs1131691087
rs1131691087
NF1
1 17 31249073 stop gained C/G snv 0.700 0
dbSNP: rs1131691088
rs1131691088
NF1
1 17 31261760 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs1131691093
rs1131691093
NF1
1 17 31338035 stop gained C/T snv 0.700 0
dbSNP: rs1131691094
rs1131691094
NF1
1 17 31181484 frameshift variant -/A delins 0.700 0
dbSNP: rs1131691101
rs1131691101
NF1 ; MIR4733 ; LOC105371722
2 1.000 0.120 17 31095371 splice donor variant T/- del 0.700 0
dbSNP: rs1131691102
rs1131691102
NF1
1 17 31349125 frameshift variant A/- del 0.700 0
dbSNP: rs1131691104
rs1131691104
NF1
1 17 31230366 stop gained C/T snv 0.700 0
dbSNP: rs1131691105
rs1131691105
NF1
2 1.000 0.120 17 31227216 splice acceptor variant A/C;G snv 0.700 0
dbSNP: rs1131691106
rs1131691106
NF1
2 1.000 0.120 17 31201441 frameshift variant T/- delins 0.700 0
dbSNP: rs1131691107
rs1131691107
NF1
1 17 31350282 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691108
rs1131691108
NF1
1 17 31225209 frameshift variant C/- delins 0.700 0
dbSNP: rs1131691113
rs1131691113
NF1
1 17 31350183 frameshift variant C/- del 0.700 0