Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596 0.752 0.240 21 45989967 intron variant C/T snv 37
rs1569518070 0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs781565158 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs1565930588 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs886041287 0.882 0.160 2 178535594 frameshift variant -/GT delins 8
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs1553846331 0.925 0.120 4 3473504 missense variant C/T snv 4
rs756015202 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4