Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs3087243 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs5742909 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs772295894
NF1
0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 7
rs2857461 0.882 0.160 22 29272015 intron variant C/T snv 0.98 3
rs763098116 0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06 3
rs11576658 0.925 0.120 1 10977679 intron variant C/T snv 0.20 2
rs2003046 0.925 0.120 1 10972770 intron variant C/A;G snv 2
rs4924410 1.000 0.040 15 40047293 intron variant A/C snv 0.73 2
rs8026641 1.000 0.040 15 40046660 intron variant G/A snv 0.73 2
rs11188147 1.000 0.040 10 95034063 downstream gene variant C/T snv 0.38 1
rs12106193 1.000 0.040 20 21560389 intergenic variant G/C;T snv 1
rs7744366 1.000 0.040 6 6854256 intergenic variant G/A;C snv 1
rs7832583 1.000 0.040 8 137565943 intron variant T/C snv 0.16 1
rs9430161 1.000 0.040 1 10986798 upstream gene variant G/T snv 0.28 1
rs4148737 1.000 0.040 7 87541836 intron variant T/C snv 0.43 1
rs752536342 1.000 0.040 3 52408080 splice region variant G/A;T snv 4.4E-06 1
rs311059 1.000 0.040 Y 2709663 intron variant T/C snv 1
rs312257 1.000 0.040 Y 2740657 intron variant G/A snv 1
rs224278 1.000 0.040 10 62820815 intron variant C/T snv 0.39 1
rs4820804 1.000 0.040 22 29273704 intron variant T/C snv 0.40 0.35 1
rs944684 1.000 0.040 10 62916616 intron variant C/T snv 0.80 1
rs6106336 1.000 0.040 20 21114954 non coding transcript exon variant T/G snv 0.14 1