Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 5
rs776474397
ANO5
11 22227300 splice acceptor variant A/G snv 1
rs886044915
ANO5
11 22236272 missense variant A/C snv 1
rs886044913
ASTN2 ; TRIM32
9 116699102 frameshift variant -/TA delins 1
rs201892814
CAPN3
1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 8
rs768090444
CAPN3
1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 3
rs116840795
CAV3 ; SSUH2
1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 2
rs116840786
CAV3 ; SSUH2
3 8733962 missense variant C/A;T snv 1
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv 3
rs1556880327
DMD
X 31774182 frameshift variant -/T delins 2
rs1057516028
DMD
X 32287680 stop gained G/A snv 1
rs1114167437
DMD
X 31178681 frameshift variant T/- del 1
rs1114167439
DMD
X 32438240 splice donor variant C/- delins 1
rs1556980528
DMD
X 32738791 intron variant T/C snv 1
rs886044916
DMD
X 31209534 missense variant T/C snv 1
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 6
rs1131692158
DYSF
1.000 0.120 2 71669207 missense variant G/A;C snv 5
rs1553521119
DYSF
0.925 0.120 2 71513892 frameshift variant C/- del 5
rs770905160
DYSF
0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 5
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37