Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs750519430
TTN ; TTN-AS1
1.000 0.120 2 178532202 stop gained G/A snv 8.1E-06 1
rs727504589
TTN ; TTN-AS1
2 178620714 splice donor variant C/A;T snv 8.1E-06; 4.0E-06 1
rs758279518
TTN ; TTN-AS1
0.925 0.160 2 178579938 splice donor variant C/T snv 8.1E-06 2
rs771511344
TTN-AS1 ; TTN
1.000 0.040 2 178538795 stop gained T/A;C snv 8.1E-06 1
rs764243269
TTN ; TTN-AS1
2 178587708 stop gained G/A;T snv 8.1E-06; 4.0E-06 1
rs774411587
TTN-AS1 ; TTN
0.925 0.160 2 178566838 stop gained G/A;T snv 8.1E-06; 4.0E-06 2
rs770767998
TTN-AS1 ; TTN
2 178629441 stop gained G/A;C;T snv 8.1E-06 1
rs753333359
TTN-AS1 ; TTN
0.925 0.160 2 178605552 stop gained G/A snv 8.1E-06 2
rs72648250
TTN-AS1 ; TTN
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 4
rs140743001
TTN ; TTN-AS1
1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05 2
rs727505284
TTN ; TTN-AS1
0.925 0.160 2 178565416 stop gained G/A snv 8.0E-06 1.4E-05 3
rs368452607
TTN ; TTN-AS1
2 178588700 stop gained G/A;T snv 4.0E-06; 8.0E-06 1
rs1060500503
TTN-AS1 ; TTN
0.925 0.160 2 178609774 stop gained C/A;T snv 8.0E-06 2
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs869312085
TTN ; TTN-AS1
2 178539559 stop gained G/A snv 8.0E-06 1
rs375076970
TTN ; TTN-AS1
1.000 0.040 2 178544424 stop gained G/A;T snv 8.0E-06 1
rs768296130
TTN ; TTN-AS1
1.000 0.120 2 178530461 missense variant T/G snv 8.0E-06 7.0E-06 1
rs534484592
TTN-AS1 ; TTN
1.000 0.120 2 178531192 stop gained G/A;C snv 8.0E-06; 4.0E-06 1
rs1009131948
TTN-AS1 ; TTN
1.000 0.120 2 178527548 stop gained G/A snv 8.0E-06 1.4E-05 1
rs756433029
LOC101927055 ; TTN-AS1 ; TTN
2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05 1
rs368200299
TTN-AS1 ; TTN
2 178620285 stop gained G/A;T snv 4.9E-06 2
rs1131691381
TTN-AS1 ; TTN
0.925 0.160 2 178605696 stop gained C/A snv 4.6E-06 2
rs749705939
TTN-AS1 ; TTN
0.925 0.160 2 178622768 splice acceptor variant C/T snv 4.5E-06 7.0E-06 2
rs760915007
TTN ; TTN-AS1
0.925 0.160 2 178529959 splice donor variant C/T snv 4.5E-06 2
rs751319893
TTN ; TTN-AS1
1.000 0.040 2 178573300 frameshift variant -/AAGA delins 4.5E-06 1