Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2151280 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs35857561 0.925 0.160 11 10628820 missense variant G/A snv 5.6E-02 5.0E-02 2
rs145891889
NF1
1.000 0.120 17 31225243 missense variant C/T snv 6.0E-04 2.2E-03 1
rs147955381
NF1
1.000 0.120 17 31232853 missense variant C/A;T snv 7.0E-04 8.1E-04 1
rs777369021
NF1
1.000 0.120 17 31200538 synonymous variant T/C snv 8.4E-05 1.0E-04 1
rs149055633
NF1
1.000 0.120 17 31352319 missense variant C/T snv 5.6E-05 6.3E-05 1
rs199474740
NF1
1.000 0.120 17 31232092 missense variant A/G snv 1.2E-05 5.5E-05 1
rs773647920 1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 5
rs555635097
NF1
1.000 0.120 17 31225133 stop gained C/A;T snv 2.4E-05 2.8E-05 1
rs267606600
NF1
1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 4
rs397514641
NF1
0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 11
rs199474766
NF1
1.000 0.120 17 31265317 missense variant A/G snv 4.0E-06 1.4E-05 1
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 6
rs786202567 1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 5
rs899638423 1.000 0.120 5 87268495 missense variant C/T snv 7.1E-06 1
rs267606603
NF1
1.000 0.120 17 31201486 splice donor variant G/A;T snv 7.0E-06 1
rs587778548
NF1
1.000 0.120 17 31219026 stop gained G/A;T snv 8.0E-06 7.0E-06 1
rs876660428
NF1
1.000 0.120 17 31258476 stop gained G/A;T snv 7.0E-06 1
rs894292181
NF1
1.000 0.120 17 31219104 stop gained C/T snv 7.0E-06 2
rs1193716348
NF1
1.000 0.120 17 31337850 stop gained G/A snv 7.0E-06 1
rs121918457 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs760703505
NF1
0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06 5
rs199474728
NF1
1.000 0.120 17 31159083 missense variant G/A snv 7.0E-06 1
rs864622639
NF1
1.000 0.120 17 31343098 inframe deletion AACTTT/- delins 7.0E-06 2
rs1421234927 1.000 0.120 10 17902044 missense variant T/C snv 7.0E-06 1