Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2012 2019
dbSNP: rs397517580
rs397517580
TTN ; TTN-AS1
2 178621517 stop gained G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2015
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2016
dbSNP: rs727503602
rs727503602
TTN ; TTN-AS1
1.000 0.040 2 178604049 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2015
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
0.882 0.160 2 178605642 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2014
dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2012 2014
dbSNP: rs397517735
rs397517735
TTN ; TTN-AS1
0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2012 2013
dbSNP: rs727505284
rs727505284
TTN ; TTN-AS1
0.925 0.160 2 178565416 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2015 2016
dbSNP: rs1064793814
rs1064793814
TTN ; TTN-AS1
2 178559769 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs397517587
rs397517587
TTN ; TTN-AS1
2 178618768 stop gained G/A;T snv 4.1E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs397517664
rs397517664
TTN ; TTN-AS1
2 178581650 stop gained G/T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs574660186
rs574660186
TTN ; TTN-AS1
0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs727503586
rs727503586
TTN ; TTN-AS1
0.925 0.160 2 178589508 stop gained A/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs727504843
rs727504843
TTN ; TTN-AS1
2 178718815 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs112240298
rs112240298
TTN ; TTN-AS1
2 178538945 splice donor variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553603152
rs1553603152
TTN ; TTN-AS1
1.000 0.040 2 178570586 stop gained G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1559877046
rs1559877046
TTN ; TTN-AS1
2 178621183 stop gained T/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs200797552
rs200797552
TTN ; TTN-AS1
2 178578078 stop gained C/A;T snv 3.3E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs202234172
rs202234172
TTN ; TTN-AS1
2 178689897 splice acceptor variant C/T snv 3.4E-04 4.7E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs368200299
rs368200299
TTN ; TTN-AS1
2 178620285 stop gained G/A;T snv 4.9E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs368452607
rs368452607
TTN ; TTN-AS1
2 178588700 stop gained G/A;T snv 4.0E-06; 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs371678190
rs371678190
TTN ; TTN-AS1
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs373040154
rs373040154
TTN ; TTN-AS1
0.925 0.160 2 178617388 stop gained G/A;T snv 3.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517586
rs397517586
TTN ; TTN-AS1
2 178618777 stop gained A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0