Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv 3
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv 3
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 3
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv 1
rs730882052
CASQ1
1.000 1 160195976 missense variant A/G snv 1
rs797046047
TPM3
1.000 0.080 1 154170441 missense variant C/A snv 1
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
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 8
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 8
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 2
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv 1
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins 1
rs57639980
DES
1.000 0.160 2 219421350 missense variant T/C snv 1
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 1