Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs121908457
LOC101928005 ; MYOT
0.882 0.120 5 137870815 missense variant C/T snv 13
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
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 9
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
rs1563083759
TNPO3
0.925 0.120 7 128957260 frameshift variant G/- del 6
rs142336618
GMPPB
0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 5
rs1553521119
DYSF
0.925 0.120 2 71513892 frameshift variant C/- del 5
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs60458016
LMNA
0.827 0.120 1 156136036 stop gained G/A;T snv 5
rs770905160
DYSF
0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 5
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs1057518925
COL6A2
1.000 0.120 21 46114006 splice acceptor variant A/G snv 4
rs121908458
MYOT ; LOC101928005
0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 4
rs142908436
GMPPB
0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 4
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs199474724
LMNA
0.851 0.120 1 156134839 missense variant G/A snv 4
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4
rs549794342
NEB ; RIF1
0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 4
rs746438011
SYNE1
0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4
rs121909518
FLNC-AS1 ; FLNC
0.882 0.120 7 128858475 stop gained G/A snv 3