Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869312054
TTN ; TTN-AS1
2 178593566 splice donor variant A/G snv 1.4E-05 2
rs869312099
TTN-AS1 ; TTN
0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05 6
rs753334568
TTN-AS1 ; TTN
0.882 0.200 2 178546041 missense variant G/A snv 1.2E-05 1.4E-05 3
rs139517732
TTN
0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 1
rs756433029
LOC101927055 ; TTN-AS1 ; TTN
2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05 1
rs760768093
TTN-AS1 ; TTN
0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 7
rs1009131948
TTN-AS1 ; TTN
1.000 0.120 2 178527548 stop gained G/A snv 8.0E-06 1.4E-05 1
rs943777958
TTN ; TTN-AS1
0.925 0.160 2 178534887 stop gained C/A;T snv 2.4E-05 1.4E-05 2
rs749705939
TTN-AS1 ; TTN
0.925 0.160 2 178622768 splice acceptor variant C/T snv 4.5E-06 7.0E-06 2
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
rs751746401
TTN-AS1 ; TTN
0.925 0.160 2 178617857 stop gained G/A snv 4.0E-06 7.0E-06 2
rs794729265
TTN-AS1 ; TTN
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06 3
rs768431507
TTN ; TTN-AS1
1.000 0.040 2 178605011 stop gained G/A snv 8.3E-06 7.0E-06 1
rs926741242
TTN ; TTN-AS1
1.000 0.040 2 178609289 stop gained G/A snv 4.3E-06 7.0E-06 1
rs1343120755
TTN ; TTN-AS1
0.925 0.160 2 178609301 stop gained G/A snv 7.0E-06 2
rs1483931960
TTN-AS1 ; TTN
0.925 0.160 2 178601337 stop gained G/A snv 7.0E-06 2
rs794729263
TTN-AS1 ; TTN
1.000 0.040 2 178613939 splice acceptor variant T/A snv 7.0E-06 1
rs794729324
TTN-AS1 ; TTN
2 178607209 frameshift variant C/- delins 7.0E-06 1
rs761807131
TTN ; TTN-AS1
0.882 0.160 2 178610089 splice donor variant C/T snv 4.0E-06 7.0E-06 3
rs974671846
TTN ; TTN-AS1
0.925 0.160 2 178592211 stop gained C/T snv 7.0E-06 3
rs1389777522
TTN-AS1 ; TTN
0.925 0.160 2 178607429 frameshift variant T/- delins 7.0E-06 2
rs794729284
TTN-AS1 ; TTN
0.925 0.160 2 178572286 stop gained G/A snv 4.0E-06 7.0E-06 2
rs1060500525
TTN ; TTN-AS1
1.000 0.040 2 178559797 stop gained G/A snv 7.0E-06 1
rs397517633
TTN ; TTN-AS1
2 178594499 frameshift variant T/- del 7.0E-06 1