Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141322087 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1060499548 0.724 0.440 9 130872961 missense variant G/A snv 27
rs868064163 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs387906846 0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs762642 1.000 0.040 14 53956335 splice region variant A/C snv 0.35 2
rs1346496644 1 85581440 missense variant C/G;T snv 1
rs768000961 4 121823490 missense variant G/A snv 8.1E-06 1
rs1554333853 0.689 0.320 7 40046006 missense variant A/G snv 54
rs759125480 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs199715380 2 130597533 missense variant C/T snv 2
rs2579433 2 130522115 missense variant T/A;C snv 1
rs1563595095 0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs367557471 1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 4
rs1567263168 0.851 0.240 16 3729444 missense variant C/T snv 10
rs1567053134 0.925 0.040 15 74345160 frameshift variant AG/- del 8
rs769402060 0.925 0.120 2 38075022 missense variant A/G snv 3.3E-05 4.2E-05 3
rs769236847 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 8
rs1553284997 0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv 3
rs2298444 0.925 0.120 11 72221370 intron variant T/C snv 0.27 3
rs104894073 0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs804280 0.882 0.120 8 11755189 intron variant C/A;G snv 6