Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
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
rs374259530
ADSL
0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 5
rs756210458
ADSL
0.925 0.200 22 40354266 missense variant C/G;T snv 4.0E-06; 1.2E-05 5
rs1131692158
DYSF
1.000 0.120 2 71669207 missense variant G/A;C snv 5
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
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4