Source: CLINVAR

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
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
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
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 8
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 5
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
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
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 2
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
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
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
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 21
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19