Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517626
TTN ; TTN-AS1
1.000 0.040 2 178598977 frameshift variant -/T delins 4.1E-06 7.0E-06 2
rs794729351
TTN-AS1 ; TTN
0.925 0.160 2 178563059 frameshift variant AGCACTTGCA/- del 7.0E-06 2
rs1476017129
TTN ; TTN-AS1
1.000 0.040 2 178580120 frameshift variant TA/- delins 7.0E-06 1
rs797044692
TTN ; TTN-AS1
0.925 0.160 2 178591043 frameshift variant -/A delins 7.0E-06 2
rs794729289
TTN ; TTN-AS1
0.925 0.160 2 178567954 stop gained C/A snv 7.0E-06 2
rs1260821931
TTN ; TTN-AS1
0.925 0.160 2 178535729 stop gained C/T snv 7.0E-06 2
rs794729305
TTN ; TTN-AS1
0.925 0.160 2 178535388 stop gained G/A snv 7.0E-06 2
rs1064795407
TTN ; TTN-AS1
1.000 0.040 2 178563537 frameshift variant -/T delins 7.0E-06 1
rs869312121
TTN ; TTN-AS1
2 178546476 stop gained G/A snv 7.0E-06 1
rs794729365
TTN ; TTN-AS1
0.925 0.160 2 178542803 frameshift variant -/T delins 7.0E-06 2
rs769821404
TTN-AS1 ; TTN
0.925 0.160 2 178564409 stop gained A/G;T snv 1.2E-05 7.0E-06 2
rs869312038
TTN ; TTN-AS1
2 178740589 frameshift variant TG/- delins 7.0E-06 1
rs974510652
TTN-AS1 ; TTN
1.000 0.040 2 178552194 stop gained C/A;T snv 4.0E-06 7.0E-06 1
rs869312037
TTN-AS1 ; TTN
2 178770484 frameshift variant CA/- delins 7.0E-06 1
rs768296130
TTN ; TTN-AS1
1.000 0.120 2 178530461 missense variant T/G snv 8.0E-06 7.0E-06 1
rs1064794472
TTN-AS1 ; TTN
0.925 0.160 2 178553784 frameshift variant -/A ins 7.0E-06 2
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 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
rs869178171
TTN-AS1 ; TTN
0.790 0.200 2 178563475 stop gained C/A snv 7
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