Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727504466
TTN-AS1 ; TTN
2 178591326 frameshift variant T/- del 2
rs727504856
TTN-AS1 ; TTN
1.000 0.040 2 178559330 frameshift variant CTTT/- del 2
rs794729285
TTN-AS1 ; TTN
1.000 0.040 2 178571794 stop gained G/A snv 4.0E-06 2
rs794729338
TTN-AS1 ; TTN
1.000 0.080 2 178574146 stop gained CATATGC/TA delins 2
rs1064793814
TTN-AS1 ; TTN
2 178559769 stop gained C/T snv 1
rs1408345511
TTN-AS1 ; TTN
2 178740175 frameshift variant G/- delins 4.0E-06 1
rs1553577362
TTN-AS1 ; TTN
2 178564611 frameshift variant G/- delins 1
rs1553691320
TTN-AS1 ; TTN
2 178609440 frameshift variant T/- del 1
rs397517565
TTN-AS1 ; TTN
2 178635714 frameshift variant T/- delins 1
rs397517576
TTN-AS1 ; TTN
2 178629361 frameshift variant G/- delins 1
rs397517584
TTN-AS1 ; TTN
2 178620451 frameshift variant AT/- del 1
rs397517586
TTN-AS1 ; TTN
2 178618777 stop gained A/G;T snv 1
rs397517587
TTN-AS1 ; TTN
2 178618768 stop gained G/A;T snv 4.1E-05 1
rs397517620
TTN-AS1 ; TTN
2 178604051 stop gained A/C;G snv 1
rs397517624
TTN-AS1 ; TTN
2 178599145 splice donor variant C/T snv 1
rs397517628
TTN-AS1 ; TTN
2 178597955 frameshift variant C/- delins 1
rs397517664
TTN-AS1 ; TTN
2 178581650 stop gained G/T snv 4.0E-06 1
rs397517679
TTN-AS1 ; TTN
2 178576783 frameshift variant CTT/-;CTTTCTT delins 4.0E-06 1
rs397517741
TTN-AS1 ; TTN
2 178553912 splice donor variant CCA/- delins 1
rs397517750
TTN-AS1 ; TTN
2 178552121 frameshift variant -/A delins 1
rs587782987
TTN-AS1 ; TTN
2 178611274 splice region variant G/A snv 1.1E-04; 4.1E-06 1.0E-04 1
rs6716782
TTN-AS1 ; TTN
2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04 1
rs72646831
TTN-AS1 ; TTN
2 178597751 stop gained G/A snv 1
rs727503546
TTN-AS1 ; TTN
2 178547178 frameshift variant TCTT/- delins 1
rs727503552
TTN-AS1 ; TTN
2 178557838 frameshift variant G/- del 1