Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04 1
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs1553265736 0.925 0.040 1 156136080 missense variant G/C snv 4
rs1553479603 2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins 1
rs1553577362 2 178564611 frameshift variant G/- delins 1
rs1553603152 1.000 0.040 2 178570586 stop gained G/T snv 2
rs1553603456 2 178570689 frameshift variant C/- delins 1
rs1553607425 2 178572745 frameshift variant C/- delins 1
rs1553691320 2 178609440 frameshift variant T/- del 1
rs1553707780 0.925 0.040 2 178616928 frameshift variant T/- del 4
rs1553741321 2 178633304 frameshift variant -/T delins 1
rs1553742630 1.000 0.080 2 178633900 frameshift variant -/C ins 2
rs1553974835 1.000 0.040 4 173529091 stop gained C/A snv 2
rs1554093433 0.925 0.080 5 173232833 stop gained G/T snv 4
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv 2
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 4
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 3
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4
rs1554875409 10 119651752 stop gained G/A snv 1
rs1555338080 14 23427274 missense variant C/G snv 1
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del 3
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs1559415567 0.925 0.160 2 178572564 frameshift variant G/- delins 3
rs1559877046 2 178621183 stop gained T/A;C snv 1