Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
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
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
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
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
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 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
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 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