Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs368970223
ANO5
0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 3
rs975757101
ANO5
1.000 0.120 11 22226034 synonymous variant G/A snv 1
rs367543077
B3GALNT2 ; TBCE
0.882 0.120 1 235450286 stop gained G/A snv 3
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs778768583
CAPN3
0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 10
rs886042108
CAPN3
0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 10
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
rs1057518925
COL6A2
1.000 0.120 21 46114006 splice acceptor variant A/G snv 4
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs1556962271
DMD
0.925 0.120 X 31875197 frameshift variant -/AATG delins 2
rs1557396600
DMD
0.925 0.120 X 32518006 splice donor variant A/C snv 2
rs1557058294
DMD
1.000 0.120 X 32823294 splice donor variant C/T snv 1
rs760251358
DMD
1.000 0.120 X 31209642 missense variant T/C snv 1.6E-05 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
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
rs1553555585
DYSF
0.925 0.120 2 71570335 splice donor variant G/T snv 2
rs34997054
DYSF
1.000 0.120 2 71511847 missense variant G/A snv 7.1E-03 4.1E-03 1
rs121908110
FKRP
0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 4
rs121909518
FLNC-AS1 ; FLNC
0.882 0.120 7 128858475 stop gained G/A snv 3
rs142336618
GMPPB
0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 5
rs142908436
GMPPB
0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 4