Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 3
rs545623839
MYH2 ; MYHAS
1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05 2
rs886044514
GNE ; CLTA
1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 2
rs1057518773
RYR1
19 38505868 stop gained G/A snv 1
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv 1
rs1057518866
DMD
X 32343174 stop gained A/C snv 1
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 1
rs797045479
COL6A3
2 237361150 stop gained G/A snv 1
rs797045935
RYR1
19 38506860 stop gained C/A;T snv 1
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs4149056
SLCO1B1
0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
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
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 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
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 18
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