Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3838646 0.827 0.320 Y 18991182 intron variant CA/- del 8
rs52812045 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 7
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs3761549 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 18
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16
rs1800264
DMD
0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03 5
rs4824505 0.925 0.080 X 44593652 intergenic variant G/A snv 0.22 2
rs5956583 0.925 0.080 X 123900661 missense variant A/C snv 0.33 0.39 2
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs755622 0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1232898090 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs1065852 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 19
rs2267437 0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs1445081098 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 17
rs3747093 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs132770 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 14
rs5751129 0.752 0.320 22 41619761 intron variant C/T snv 0.69 14
rs200928781 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11
rs737865 0.763 0.240 22 19942598 intron variant A/G snv 0.23 11
rs137853007 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 9
rs132793 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 7