Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1131691036 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 8
rs5780218 0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44 4
rs34296044 0.925 0.080 1 241885371 frameshift variant C/- delins 3
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113