Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs2853676 0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs1057519903 0.683 0.080 1 226064434 missense variant A/T snv 28
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs6010620 0.701 0.360 20 63678486 intron variant A/C;G snv 21
rs281865545 0.695 0.360 17 64377836 missense variant C/G;T snv 18
rs55832599 0.716 0.360 17 7673821 missense variant G/A snv 18
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 16
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs2297440 0.763 0.080 20 63680946 intron variant T/C snv 0.81 10
rs121918465 0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
rs4809324 0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 7
rs5050
AGT
0.827 0.200 1 230714140 intron variant T/C;G snv 7
rs2378456
LPP
0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 6
rs9288516 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 6
rs1057519898 0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899 0.851 0.120 8 38417879 missense variant T/C snv 5
rs17522122 0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41 5
rs2271338 0.827 0.080 4 61996533 intron variant G/A snv 0.26 5
rs71305152 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 5
rs866419664 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 5