Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs121908457
LOC101928005 ; MYOT
0.882 0.120 5 137870815 missense variant C/T snv 13
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv 10
rs886042108
CAPN3
0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 10
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv 8
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs116840805
SSUH2 ; CAV3
0.827 0.160 3 8745725 missense variant C/T snv 6
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
rs1553521119
DYSF
0.925 0.120 2 71513892 frameshift variant C/- del 5
rs59332535
LMNA
0.827 0.160 1 156134911 missense variant G/A snv 5
rs60458016
LMNA
0.827 0.120 1 156136036 stop gained G/A;T snv 5
rs1057518925
COL6A2
1.000 0.120 21 46114006 splice acceptor variant A/G snv 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
rs121909518
FLNC-AS1 ; FLNC
0.882 0.120 7 128858475 stop gained G/A snv 3
rs367543077
B3GALNT2 ; TBCE
0.882 0.120 1 235450286 stop gained G/A snv 3
rs1553555585
DYSF
0.925 0.120 2 71570335 splice donor variant G/T snv 2
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
rs267607634
LMNA
0.925 0.120 1 156136045 missense variant G/A;C snv 2
rs57207746
LMNA
0.925 0.120 1 156134860 missense variant G/A snv 2
rs1457591395
WWP1
1.000 0.120 8 86427804 missense variant G/A snv 7.0E-06 1