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
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913400 0.683 0.360 3 41224610 missense variant C/A;G;T snv 26
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 24
rs4977756 0.683 0.440 9 22068653 intron variant G/A snv 0.64 24
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs587782329 0.677 0.280 17 7674217 missense variant C/A;G;T snv 23
rs1057519932 0.683 0.320 3 179234298 missense variant T/G snv 22
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs1057519895 0.724 0.240 4 152328232 missense variant C/A;G;T snv 17
rs2157719 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 17
rs28931588 0.701 0.200 3 41224606 missense variant G/A;C;T snv 17
rs28931589 0.695 0.240 3 41224613 missense variant G/A;C;T snv 17
rs397517201 0.732 0.240 3 179218307 missense variant A/C;G;T snv 16
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 16
rs121913228 0.742 0.200 3 41224621 missense variant T/C;G snv 14
rs3734254 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 14
rs80358920 0.732 0.400 13 32346841 stop gained C/G;T snv 14
rs1057519940 0.752 0.200 3 179218308 missense variant G/T snv 13
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 13