Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555613206
NF1
0.925 0.200 17 31221929 missense variant G/A;T snv 3
rs199474747
NF1
0.925 0.120 17 31229155 missense variant T/C;G snv 3
rs199474750
NF1
1.000 0.120 17 31258502 missense variant G/A;C;T snv 3
rs267606604
NF1
0.925 0.120 17 31336328 splice region variant A/G snv 3
rs786202782
NF1
0.925 0.120 17 31223476 frameshift variant ACTA/- delins 3
rs1057517967
NF1
1.000 0.120 17 31181724 stop gained G/A snv 2
rs1057518792
NF1
1.000 0.080 17 31229024 splice acceptor variant G/A;C snv 2
rs1060500242
NF1
1.000 0.120 17 31260496 stop gained C/T snv 2
rs1060500296
NF1
1.000 0.120 17 31336474 splice donor variant G/A snv 2
rs1060500387
NF1
1.000 0.120 17 31358566 frameshift variant AG/- delins 2
rs1085307459
NF1
1.000 0.120 17 31325958 frameshift variant CTCT/- delins 2
rs1131691067
NF1
1.000 0.120 17 31203089 intron variant A/G snv 2
rs1131691077
NF1
1.000 0.120 17 31235916 splice acceptor variant A/G snv 2
rs1131691084
NF1
1.000 0.120 17 31337517 frameshift variant GAGA/-;GA delins 2
rs1131691089
NF1
1.000 0.120 17 31232071 splice acceptor variant A/G;T snv 2
rs1131691090
NF1
1.000 0.120 17 31356981 stop gained C/G snv 2
rs1131691092
NF1
1.000 0.120 17 31233030 frameshift variant AA/- del 2
rs1131691096
NF1
1.000 0.120 17 31221930 splice donor variant G/A;C;T snv 2
rs1131691100
NF1
1.000 0.120 17 31155981 splice acceptor variant A/G;T snv 2
rs1131691105
NF1
1.000 0.120 17 31227216 splice acceptor variant A/C;G snv 2
rs1131691106
NF1
1.000 0.120 17 31201441 frameshift variant T/- delins 2
rs1131691114
NF1
1.000 0.120 17 31343008 splice acceptor variant G/T snv 2
rs1131691117
NF1
1.000 0.120 17 31327840 splice donor variant G/A snv 2
rs1131691122
NF1
1.000 0.120 17 31229466 splice donor variant G/A;T snv 2
rs1131691127
NF1
1.000 0.120 17 31230378 frameshift variant T/-;TT delins 2