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: rs1057516197
rs1057516197
NF1 ; MIR4733 ; LOC105371722
1 1.000 0.120 17 31095323 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517848
rs1057517848
NF1
1 1.000 0.120 17 31227294 splice region variant A/G snv 0.700 0
dbSNP: rs1057517967
rs1057517967
NF1
2 1.000 0.120 17 31181724 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518326
rs1057518326
NF1
1 1.000 0.120 17 31325819 splice acceptor variant G/A;C snv 0.700 1.000 2 2000 2013
dbSNP: rs1057518360
rs1057518360
NF1
1 1.000 0.120 17 31181420 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1057518807
rs1057518807
NF1
3 0.882 0.200 17 31338788 stop gained C/T snv 0.700 1.000 4 1996 2016
dbSNP: rs1057518884
rs1057518884
NF1
1 1.000 0.120 17 31155990 frameshift variant T/- del 0.700 0
dbSNP: rs1057518904
rs1057518904
NF1
5 0.882 0.240 17 31221932 missense variant A/G snv 0.700 1.000 6 1994 2015
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519370
rs1057519370
NF1
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
dbSNP: rs1057521098
rs1057521098
NF1
1 1.000 0.120 17 31200598 splice region variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs1057523533
rs1057523533
NF1
1 1.000 0.120 17 31338805 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1060500242
rs1060500242
NF1
2 1.000 0.120 17 31260496 stop gained C/T snv 0.700 0
dbSNP: rs1060500245
rs1060500245
NF1
1 1.000 0.120 17 31181490 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1060500252
rs1060500252
NF1 ; MIR4733 ; LOC105371722
1 1.000 0.120 17 31095310 start lost A/G snv 0.700 1.000 2 2013 2013
dbSNP: rs1060500254
rs1060500254
NF1
1 1.000 0.120 17 31229148 missense variant T/C snv 0.700 1.000 3 2014 2018
dbSNP: rs1060500255
rs1060500255
NF1
1 1.000 0.120 17 31325997 stop gained C/A;T snv 0.700 0
dbSNP: rs1060500266
rs1060500266
NF1
1 1.000 0.120 17 31338703 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1060500268
rs1060500268
NF1
1 1.000 0.120 17 31337875 frameshift variant T/- del 0.700 0
dbSNP: rs1060500271
rs1060500271
NF1
1 1.000 0.120 17 31233071 frameshift variant A/- delins 0.700 0
dbSNP: rs1060500273
rs1060500273
NF1
1 1.000 0.120 17 31230259 splice acceptor variant G/A;C snv 0.700 1.000 5 1996 2014
dbSNP: rs1060500274
rs1060500274
NF1
1 1.000 0.120 17 31181786 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs1060500276
rs1060500276
NF1
1 1.000 0.120 17 31233144 inframe deletion AAT/- del 0.700 0
dbSNP: rs1060500278
rs1060500278
NF1
1 1.000 0.120 17 31223448 stop gained C/T snv 0.700 0
dbSNP: rs1060500284
rs1060500284
NF1
1 1.000 0.120 17 31170002 splice region variant G/A;C snv 0.700 0