Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs200198778
POMT2
0.827 0.160 14 77278764 missense variant T/C snv 5.6E-05 9.8E-05 5
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4
rs267607644
LMNA
1.000 0.120 1 156115022 missense variant T/C snv 1
rs747064211
PRKN
1.000 0.120 6 161350178 missense variant T/C snv 4.0E-06 1
rs760251358
DMD
1.000 0.120 X 31209642 missense variant T/C snv 1.6E-05 1
rs1553265369
LMNA
1.000 0.120 1 156134954 inframe deletion GAG/- delins 1
rs1553265761
LMNA
1.000 0.120 1 156136111 inframe deletion GAG/- delins 1
rs1553265436
LMNA
1.000 0.120 1 156135214 inframe deletion GAACAG/- delins 1
rs1553555585
DYSF
0.925 0.120 2 71570335 splice donor variant G/T snv 2
rs886042108
CAPN3
0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 10
rs778768583
CAPN3
0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 10
rs1553265433
LMNA
1.000 0.120 1 156135208 missense variant G/C snv 1
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs60458016
LMNA
0.827 0.120 1 156136036 stop gained G/A;T snv 5
rs142908436
GMPPB
0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 4
rs548397345
SMCHD1
0.925 0.120 18 2724901 missense variant G/A;C;T snv 4.9E-06; 4.9E-06; 4.4E-05 2
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs267607576
LMNA
0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 2
rs267607634
LMNA
0.925 0.120 1 156136045 missense variant G/A;C snv 2
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 9
rs59332535
LMNA
0.827 0.160 1 156134911 missense variant G/A snv 5
rs199474724
LMNA
0.851 0.120 1 156134839 missense variant G/A snv 4