Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727503586
TTN ; TTN-AS1
0.925 0.160 2 178589508 stop gained A/T snv 3
rs727504550
TTN-AS1 ; TTN
0.925 0.160 2 178539537 stop gained C/T snv 3
rs727505284
TTN ; TTN-AS1
0.925 0.160 2 178565416 stop gained G/A snv 8.0E-06 1.4E-05 3
rs770038577
TTN ; TTN-AS1
0.925 0.160 2 178561042 stop gained G/A;T snv 4.0E-06 3
rs775186117
TTN ; TTN-AS1
0.925 0.160 2 178617393 stop gained G/A snv 3
rs794728602
LMNA
1.000 0.040 1 156115168 missense variant G/A snv 3
rs794729265
TTN-AS1 ; TTN
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06 3
rs869025545
TTN-AS1 ; TTN
0.925 0.160 2 178566448 stop gained G/A snv 3
rs869312070
TTN-AS1 ; TTN
0.925 0.160 2 178613938 splice acceptor variant C/T snv 4.1E-06 3
rs869312112
TTN ; TTN-AS1
0.925 0.160 2 178590230 stop gained G/A snv 3
rs869312118
TTN ; TTN-AS1
0.925 0.160 2 178562617 stop gained G/A snv 3
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv 3
rs974671846
TTN ; TTN-AS1
0.925 0.160 2 178592211 stop gained C/T snv 7.0E-06 3
rs140743001
TTN ; TTN-AS1
1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05 2
rs1553603152
TTN ; TTN-AS1
1.000 0.040 2 178570586 stop gained G/T snv 2
rs1553974835
HAND2-AS1 ; HAND2
1.000 0.040 4 173529091 stop gained C/A snv 2
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv 2
rs1564664312
RBM20
1.000 0.040 10 110821333 missense variant T/A snv 2
rs199473161
SCN5A
1.000 0.080 3 38586038 missense variant G/A;T snv 2
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 2
rs267607002
RBM20
1.000 0.040 10 110812303 missense variant C/A;T snv 2
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv 2