Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs549794342
NEB ; RIF1
0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 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
rs368970223
ANO5
0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 3
rs387907298
SGCA ; LOC105371818
0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06 2
rs72554656
PGK1 ; ATP7A
1.000 0.120 X 78042645 stop gained C/T snv 1
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
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
rs778768583
CAPN3
0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 10
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv 8
rs116840805
SSUH2 ; CAV3
0.827 0.160 3 8745725 missense variant C/T snv 6
rs142336618
GMPPB
0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 5
rs200198778
POMT2
0.827 0.160 14 77278764 missense variant T/C snv 5.6E-05 9.8E-05 5
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs59332535
LMNA
0.827 0.160 1 156134911 missense variant G/A snv 5
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs121908110
FKRP
0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 4