Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 4
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 3
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs797045935
RYR1
19 38506860 stop gained C/A;T snv 1
rs122458141
FHL1
1.000 0.120 X 136208625 missense variant C/G snv 1
rs387907047
DNAJB6
1.000 7 157367424 missense variant C/G snv 1
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 4
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv 4
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv 1
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs74315296
CPT2
0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 4
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 3
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv 3
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
rs121909335
VCP
0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 2
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 2
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 2
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv 1
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 1