Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins 8
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 8
rs760768093
TTN-AS1 ; TTN
0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 7
rs869178171
TTN-AS1 ; TTN
0.790 0.200 2 178563475 stop gained C/A snv 7
rs574660186
TTN ; TTN-AS1
0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05 7
rs869312099
TTN-AS1 ; TTN
0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05 6
rs1553543413
TTN-AS1 ; TTN
0.807 0.200 2 178553783 frameshift variant -/T delins 6
rs794729340
TTN-AS1 ; TTN
0.807 0.200 2 178570991 frameshift variant TCTT/- delins 6
rs397517689
TTN-AS1 ; TTN
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 5
rs727503607
TTN-AS1 ; TTN
0.882 0.160 2 178605642 stop gained C/A snv 4
rs72648250
TTN-AS1 ; TTN
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 4
rs1553707780
TTN-AS1 ; TTN
0.925 0.040 2 178616928 frameshift variant T/- del 4
rs869320740
TTN-AS1 ; TTN
0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 4
rs72646846
TTN ; TTN-AS1
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 4
rs397517735
TTN ; TTN-AS1
0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 4
rs727505319
TTN ; TTN-AS1
0.925 0.160 2 178542263 splice donor variant C/G;T snv 4.2E-06 4
rs727504531
TTN-AS1 ; TTN
0.925 0.160 2 178573463 frameshift variant A/- del 3
rs727503565
TTN-AS1 ; TTN
0.925 0.160 2 178574498 frameshift variant T/- delins 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
rs373040154
TTN-AS1 ; TTN
0.925 0.160 2 178617388 stop gained G/A;T snv 3.2E-05 3