Source: INFERRED ×
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
rs1556880327
DMD
X 31774182 frameshift variant -/T delins 2
rs886044913
ASTN2 ; TRIM32
9 116699102 frameshift variant -/TA delins 1
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs886044915
ANO5
11 22236272 missense variant A/C snv 1
rs776474397
ANO5
11 22227300 splice acceptor variant A/G snv 1
rs1553521119
DYSF
0.925 0.120 2 71513892 frameshift variant C/- del 5
rs1114167439
DMD
X 32438240 splice donor variant C/- delins 1
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
rs116840786
CAV3 ; SSUH2
3 8733962 missense variant C/A;T snv 1
rs201892814
CAPN3
1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 8
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs770905160
DYSF
0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 5
rs768090444
CAPN3
1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 3
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv 3
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs201518227
TOR1AIP1
1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 8
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs398123383
LAMA2
1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4
rs1555452876
PKD1 ; MIR6511B1
1.000 16 2106222 inframe deletion CTC/- delins 5
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48