Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517580
TTN ; TTN-AS1
2 178621517 stop gained G/A snv 7.0E-06 1
rs869312048
TTN-AS1 ; TTN
2 178615418 stop gained C/T snv 7.0E-06 1
rs794729265
TTN-AS1 ; TTN
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06 3
rs794729324
TTN-AS1 ; TTN
2 178607209 frameshift variant C/- delins 7.0E-06 1
rs974671846
TTN ; TTN-AS1
0.925 0.160 2 178592211 stop gained C/T snv 7.0E-06 3
rs397517626
TTN ; TTN-AS1
1.000 0.040 2 178598977 frameshift variant -/T delins 4.1E-06 7.0E-06 2
rs397517633
TTN ; TTN-AS1
2 178594499 frameshift variant T/- del 7.0E-06 1
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 5
rs992189342
GCOM1 ; MYZAP
15 57618106 stop gained C/A;T snv 7.0E-06 1
rs869312121
TTN ; TTN-AS1
2 178546476 stop gained G/A snv 7.0E-06 1
rs869312038
TTN ; TTN-AS1
2 178740589 frameshift variant TG/- delins 7.0E-06 1
rs730880140
MYBPC3
1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06 2
rs794728591
LMNA
1.000 0.080 1 156134811 missense variant C/T snv 4.0E-06 7.0E-06 2
rs869312037
TTN-AS1 ; TTN
2 178770484 frameshift variant CA/- delins 7.0E-06 1
rs779488376
VCL
10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06 1
rs397517889
LMNA
0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 3
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs45516091
MYH7
14 23431608 missense variant G/A snv 1.2E-05 7.0E-06 2
rs794728593
LMNA
1 156134933 synonymous variant G/A snv 7.0E-06 1
rs72646846
TTN ; TTN-AS1
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 4
rs563762318
RBM20
10 110831154 missense variant G/A snv 2.8E-04 6.3E-05 1
rs397517497
TTN
1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05 2
rs397517735
TTN ; TTN-AS1
0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 4