Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
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
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
rs2305948
KDR
0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 18
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
rs779707422 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 12
rs137852972 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 10
rs121918465 0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
rs5050
AGT
0.827 0.200 1 230714140 intron variant T/C;G snv 7
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 7
rs1057519897 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 6
rs2378456
LPP
0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 6
rs1057519898 0.851 0.120 8 38417333 missense variant T/C snv 5