Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 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
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
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
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs80338962
SCN4A
0.742 0.240 17 63941508 missense variant T/C snv 13
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv 11
rs121909330
VCP
0.752 0.200 9 35065364 missense variant G/A;C;T snv 11
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 11
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 11
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs267606673
ATP7A ; PGK1
0.776 0.240 X 78029314 missense variant C/T snv 9
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv 8
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 7