Gene: TTN-AS1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
3 0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs112240298
rs112240298
TTN ; TTN-AS1
1 2 178538945 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1408345511
rs1408345511
TTN ; TTN-AS1
1 2 178740175 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
1 2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins 0.700 0
dbSNP: rs1553577362
rs1553577362
TTN ; TTN-AS1
1 2 178564611 frameshift variant G/- delins 0.700 0
dbSNP: rs1553603152
rs1553603152
TTN ; TTN-AS1
2 1.000 0.040 2 178570586 stop gained G/T snv 0.700 0
dbSNP: rs1553603456
rs1553603456
TTN ; TTN-AS1
1 2 178570689 frameshift variant C/- delins 0.700 0
dbSNP: rs1553607425
rs1553607425
TTN ; TTN-AS1
1 2 178572745 frameshift variant C/- delins 0.700 0
dbSNP: rs1553691320
rs1553691320
TTN ; TTN-AS1
1 2 178609440 frameshift variant T/- del 0.700 0
dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
4 0.925 0.040 2 178616928 frameshift variant T/- del 0.700 0
dbSNP: rs1553741321
rs1553741321
TTN ; TTN-AS1
1 2 178633304 frameshift variant -/T delins 0.700 0
dbSNP: rs1559415567
rs1559415567
TTN ; TTN-AS1
3 0.925 0.160 2 178572564 frameshift variant G/- delins 0.700 0
dbSNP: rs1559877046
rs1559877046
TTN ; TTN-AS1
1 2 178621183 stop gained T/A;C snv 0.700 0
dbSNP: rs200797552
rs200797552
TTN ; TTN-AS1
1 2 178578078 stop gained C/A;T snv 3.3E-04 0.700 0
dbSNP: rs202234172
rs202234172
TTN ; TTN-AS1
1 2 178689897 splice acceptor variant C/T snv 3.4E-04 4.7E-04 0.700 0
dbSNP: rs368200299
rs368200299
TTN ; TTN-AS1
2 2 178620285 stop gained G/A;T snv 4.9E-06 0.700 0
dbSNP: rs368452607
rs368452607
TTN ; TTN-AS1
1 2 178588700 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
3 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs373040154
rs373040154
TTN ; TTN-AS1
3 0.925 0.160 2 178617388 stop gained G/A;T snv 3.2E-05 0.700 0
dbSNP: rs397517565
rs397517565
TTN ; TTN-AS1
1 2 178635714 frameshift variant T/- delins 0.700 0
dbSNP: rs397517576
rs397517576
TTN ; TTN-AS1
1 2 178629361 frameshift variant G/- delins 0.700 0
dbSNP: rs397517584
rs397517584
TTN ; TTN-AS1
1 2 178620451 frameshift variant AT/- del 0.700 0
dbSNP: rs397517586
rs397517586
TTN ; TTN-AS1
1 2 178618777 stop gained A/G;T snv 0.700 0
dbSNP: rs397517589
rs397517589
TTN ; TTN-AS1
1 2 178617845 stop gained G/A snv 0.700 0
dbSNP: rs397517601
rs397517601
TTN ; TTN-AS1
1 2 178611611 stop gained C/T snv 4.0E-06 0.700 0